DiseasesChemicals and Drugs
Argininosuccinic AcidArgininosuccinic AciduriaArgininosuccinate LyaseAmino Acid Metabolism, Inborn ErrorsArginineArgininosuccinate SynthaseGlutarates
Argininosuccinic Acid
This amino acid is formed during the urea cycle from citrulline, aspartate and ATP. This reaction is catalyzed by argininosuccinic acid synthetase.
Argininosuccinic Aciduria
Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.
Argininosuccinate Lyase
An enzyme of the urea cycle which splits argininosuccinate to fumarate plus arginine. Its absence leads to the metabolic disease ARGININOSUCCINIC ACIDURIA in man. EC 4.3.2.1.
Amino Acid Metabolism, Inborn Errors
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
Arginine
An essential amino acid that is physiologically active in the L-form.
Argininosuccinate Synthase
An enzyme of the urea cycle that catalyzes the formation of argininosuccinic acid from citrulline and aspartic acid in the presence of ATP. Absence or deficiency of this enzyme causes the metabolic disease CITRULLINEMIA in humans. EC 6.3.4.5.
Glutarates

Analysis of pyrimidine synthesis "de novo" intermediates in urine and dried urine filter- paper strips with HPLC-electrospray tandem mass spectrometry. (1/21)

BACKGROUND: The concentrations of the pyrimidine "de novo" metabolites and their degradation products in urine are useful indicators for the diagnosis of an inborn error of the pyrimidine de novo pathway or a urea-cycle defect. Until now, no procedure was available that allowed the analysis of all of these metabolites in a single analytical run. We describe a rapid, specific method to measure these metabolites by HPLC-tandem mass spectrometry. METHODS: Urine or urine-soaked filter-paper strips were used to measure N-carbamyl-aspartate, dihydroorotate, orotate, orotidine, uridine, and uracil. Reversed-phase HPLC was combined with electrospray ionization tandem mass spectrometry, and detection was performed by multiple-reaction monitoring. Stable-isotope-labeled reference compounds were used as internal standards. RESULTS: All pyrimidine de novo metabolites and their degradation products were measured within a single analytical run of 14 min with lower limits of detection of 0.4-3 micromol/L. The intra- and interassay variation for urine with added compounds was 1.2-5% for urines and 2-9% for filter-paper extracts of the urines. Recoveries of the added metabolites were 97-106% for urine samples and 97-115% for filter-paper extracts of the urines. Analysis of urine samples from patients with a urea-cycle defect or pyrimidine degradation defect showed an aberrant metabolic profile when compared with controls. CONCLUSION: HPLC with electrospray ionization tandem mass spectrometry allows rapid testing for disorders affecting the pyrimidine de novo pathway. The use of filter-paper strips could facilitate collection, transport, and storage of urine samples.  (+info)

Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. (2/21)

Urea cycle disorders (UCD) are human conditions caused by the dysregulation of nitrogen transfer from ammonia nitrogen into urea. The biochemistry and the genetics of these disorders were well elucidated. Earlier diagnosis and improved treatments led to an emerging, longer-lived cohort of patients. The natural history of some of these disorders began to point to pathophysiological processes that may be unrelated to the primary cause of acute morbidity and mortality, i.e., hyperammonemia. Carbamyl phosphate synthetase I single nucleotide polymorphisms may be associated with altered vascular resistance that becomes clinically relevant when specific environmental stressors are present. Patients with argininosuccinic aciduria due to a deficiency of argininosuccinic acid lyase are uniquely prone to chronic hepatitis, potentially leading to cirrhosis. Moreover, our recent observations suggest that there may be an increased prevalence of essential hypertension. In contrast, hyperargininemia found in patients with arginase 1 deficiency is associated with pyramidal tract findings and spasticity, without significant hyperammonemia. An intriguing potential pathophysiological link is the dysregulation of intracellular arginine availability and its potential effect on nitric oxide (NO) metabolism. By combining detailed natural history studies with the development of tissue-specific null mouse models for urea cycle enzymes and measurement of nitrogen flux through the cycle to urea and NO in UCD patients, we may begin to dissect the contribution of different sources of arginine to NO production and the consequences on both rare genetic and common multifactorial diseases.  (+info)

Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. (3/21)

An infant is described who died at 6 days of age with hyperammonemia and argininosuccinic acid in the urine. Argininosuccinic acid lyase (AL) was absent in liver, decreased in red blood cells, but normal in brain and kidney. The instability of AL in frozen stored tissues accounts for previous reports of deficient AL activity in the brain and kidney of neonates with this disease. The variation of AL activity in the tissues of this patient demonstrates that more than one gene locus either codes for the structure of this enzyme or regulates its biosynthesis in different organs.  (+info)

Contrasting features of urea cycle disorders in human patients and knockout mouse models. (4/21)

The urea cycle exists for the removal of excess nitrogen from the body. Six separate enzymes comprise the urea cycle, and a deficiency in any one of them causes a urea cycle disorder (UCD) in humans. Arginase is the only urea cycle enzyme with an alternate isoform, though no known human disorder currently exists due to a deficiency in the second isoform. While all of the UCDs usually present with hyperammonemia in the first few days to months of life, most disorders are distinguished by a characteristic profile of plasma amino acid alterations that can be utilized for diagnosis. While enzyme assay is possible, an analysis of the underlying mutation is preferable for an accurate diagnosis. Mouse models for each of the urea cycle disorders exist (with the exception of NAGS deficiency), and for almost all of them, their clinical and biochemical phenotypes rather closely resemble the phenotypes seen in human patients. Consequently, all of the current mouse models are highly useful for future research into novel pharmacological and dietary treatments and gene therapy protocols for the management of urea cycle disorders.  (+info)

Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency? (5/21)

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Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. (6/21)

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Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. (7/21)

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Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. (8/21)

Argininosuccinic aciduria is an inborn error of the urea cycle caused by deficiency of argininosuccinate lyase (ASL). ASL-deficient patients present with progressive intoxication due to accumulation of ammonia in the body. Early diagnosis and treatment of hyperammonemia are necessary to improve survival and prevent long-term handicap. Two clinical phenotypes have been recognized--neonatal acute and milder late-onset form. We investigated patients with hyperammonemia by a stepwise approach in which quantitative amino acids analysis was the core diagnostic procedure. Here, we describe the clinical phenotypes and biochemical characteristics in diagnosing this group of patients. We have identified 13 patients with argininosuccinic aciduria from 2003 till 2009. Ten patients who presented with acute neonatal hyperammonemic encephalopathy had markedly elevated blood ammonia (> 430 micromol/L) within the first few days of life. Three patients with late-onset disease had more subtle clinical presentations and they developed hyperammonemia only during the acute catabolic state at two to twelve months of age. Their blood ammonia was mild to moderately elevated (> 75-265 micromol/L). The diagnosis was confirmed by detection of excessive levels of argininosuccinate in the urine and/or plasma. They also have moderately increased levels of citrulline and, low levels of arginine and ornithine in their plasma. Two patients succumbed to the disease. To date, eleven patients remained well on a dietary protein restriction, oral ammonia scavenging drugs and arginine supplementation. The majority of them have a reasonable good neurological outcome.  (+info)

Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD - Full Text View - ClinicalTrials.govNitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD - Full Text View - ClinicalTrials.gov
Argininosuccinate lyase deficiency (ASLD; also known as argininosuccinic aciduria) is the second most common urea cycle disorder (UCD) and accounts for 15-20% of all disorders of ureagenesis. Individuals with ASLD can have unique clinical and physiologic characteristics as compared to other UCDs. Previous work from the members of the UCDC have shown that in spite of having fewer episodes of hyperammonemia as compared to those with proximal blockade of the urea cycle, individuals with ASLD can develop intellectual and learning disabilities. Neurocognitive deficits have been observed even in individuals without any documented hyperammonemia. Furthermore, hepatic abnormalities including hepatomegaly, hepatic injury, fibrosis and even frank cirrhosis, and vascular issues like hypertension are well known in the disorder. Previous work from the members of the UCDC has demonstrated a tissue- and molecular-specific role for ASL in the generation of NO. ASL is not only required for the synthesis of ...
https://clinicaltrials.gov/ct2/show/NCT03064048
Argininosuccinic Aciduria - NORD (National Organization for Rare Disorders)Argininosuccinic Aciduria - NORD (National Organization for Rare Disorders)
Treatment may require the coordinated efforts of a team of specialists. Pediatricians, neurologists, geneticists, dieticians, and physicians who are familiar with metabolic disorders may need to work together to ensure a comprehensive approach to treatment. Occupational, speech language, and physical therapists may be needed to treat children with developmental disabilities. Genetic counseling is recommended for affected individuals and their families.. The treatment of argininosuccinic aciduria is aimed at preventing excessive ammonia from being formed or from removing excessive ammonia during a hyperammonemic episode. Long-term therapy combines dietary restrictions and the stimulation of alternative methods of converting and excreting nitrogen from the body (alternative pathways therapy).. Dietary restrictions in individuals with argininosuccinic aciduria are aimed at limiting the amount of protein intake to avoid the development of excess ammonia. However, enough protein must be taken in by ...
https://rarediseases.org/rare-diseases/argininosuccinic-aciduria/
Argininosuccinic Aciduria; Arginino Succinase DeficiencyArgininosuccinic Aciduria; Arginino Succinase Deficiency
Argininosuccinic Aciduria; Arginino Succinase Deficiency. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is provided.
http://lookfordiagnosis.com/mesh_info.php?term=Argininosuccinic+Aciduria&lang=1
Biology-OnlineBiology-Online
Figure 5 An approach to diagnosis of hyperammonemia in older children OA: organic acidurias, FAO: fatty acid oxidation defects, PC: pyruvate carboxylase deficiency, PDH: pyruvate dehydrogenase deficiency, ASA: argininosuccinic acid, AS: argininosuccinic aciduria, NAGS: N-acetylglutamate synthetase deficiency, CPS I: carbamoyl phosphate synthetase I deficiency, OTC: ornithine transcarbamoylase deficiency, HHH: hyperornithinemia hyperammonemia homocitrullinuria syndrome, LPI: lysinuric protein intolerance. (Click image to enlarge) ...
https://www.biology-online.org/articles/insight-biochemistry-inborn-errors-metabolism/figures.html
ECMDB: Argininosuccinic acid (ECMDB01006) (M2MDB000224)
Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. Pubmed: 19212411 ...
http://ecmdb.ca/compounds/M2MDB000224
Argininosuccinase
Kleijer WJ et al. (2002) Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.. [^] ...
http://www.moldiag.com/moldiag/de/id/G0282
GM23410GM23410
Clinically affected; elevated orotate after allopurinol challenge with absence of argininosuccinic acid (elevated orotic acid = 759); past hyperammonemic events; on citrulline arginine supplement, sodium benzoate and sodium phenylbutyrate; protein restriction; neurologic evaluation was normal at age 1 year; donor subject is heterozygous for a C>T transition at nucleotide 67 in exon 1 of the OTC gene (67C>T) resulting in a stop at codon 23 [Arg23Ter (R23X)] ...
https://coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM23410&PgId=166
NEOMASS AAAC | MedpickNEOMASS AAAC | Medpick
NeoMass AAAC kit for newborn screening is used with Tandem Mass Spectrometry to detect concentrations of amino acid, free carnitine, acylcarnitines, succinylacetone and argininosuccinic acid.
https://medpick.in/product/neomass-aaac/
Browsing Research Repository | Research Repository UCDBrowsing Research Repository | Research Repository UCD
Research Repository UCD is a digital collection of open access scholarly research publications from University College Dublin. Research Repository UCD collects, preserves and makes freely available publications including peer-reviewed articles, working papers and conference papers created by UCD researchers. Where material has already been published it is made available subject to the open-access policies of the original publishers. This service is maintained by UCD Library ...
https://researchrepository.ucd.ie/browse?type=author&authority=rp03639
Browsing Research Repository | Research Repository UCDBrowsing Research Repository | Research Repository UCD
Research Repository UCD is a digital collection of open access scholarly research publications from University College Dublin. Research Repository UCD collects, preserves and makes freely available publications including peer-reviewed articles, working papers and conference papers created by UCD researchers. Where material has already been published it is made available subject to the open-access policies of the original publishers. This service is maintained by UCD Library ...
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AAUCD - Clinical: Amino Acids, Urea Cycle Disorders Panel, PlasmaAAUCD - Clinical: Amino Acids, Urea Cycle Disorders Panel, Plasma
AAUCD : Urea cycle disorders (UCD) are a group of inherited disorders of nitrogen detoxification that result when any of the enzymes in the urea cycle (carbamoylphosphate synthetase I: CPS I; ornithine transcarbamylase: OTC; argininosuccinic acid synthetase; argininosuccinic acid lyase; arginase; or the cofactor producer, N-acetyl glutamate synthetase: NAGS), have deficient or reduced activity. The role of the urea cycle is to metabolize and clear waste nitrogen, and defects in any of the steps of the pathway can result in an accumulation of ammonia, which can be toxic to the nervous system. The urea cycle is also responsible for endogenous production of the amino acids citrulline, ornithine, and arginine. Infants with a complete urea cycle enzyme deficiency typically appear normal at birth, but present with in the neonatal period as ammonia levels rise with lethargy, seizures, hyper- or hypoventilation, and ultimately coma or death. Individuals with partial enzyme deficiency may present later in life,
https://www.mayocliniclabs.com/test-catalog/Clinical%20and%20Interpretive/60202
Requirement of argininosuccinate lyase for systemic nitric oxide production<...Requirement of argininosuccinate lyase for systemic nitric oxide production<...
TY - JOUR. T1 - Requirement of argininosuccinate lyase for systemic nitric oxide production. AU - Erez, Ayelet. AU - Nagamani, Sandesh C.S.. AU - Shchelochkov, Oleg A.. AU - Premkumar, Muralidhar H.. AU - Campeau, Philippe M.. AU - Chen, Yuqing. AU - Garg, Harsha K.. AU - Li, Li. AU - Mian, Asad. AU - Bertin, Terry K.. AU - Black, Jennifer O.. AU - Zeng, Heng. AU - Tang, Yaoping. AU - Reddy, Anilkumar K.. AU - Summar, Marshall. AU - OBrien, William E.. AU - Harrison, David G.. AU - Mitch, William E.. AU - Marini, Juan C.. AU - Aschner, Judy L.. AU - Bryan, Nathan S.. AU - Lee, Brendan. PY - 2011/12/1. Y1 - 2011/12/1. N2 - Nitric oxide (NO) is crucial in diverse physiological and pathological processes. We show that a hypomorphic mouse model of argininosuccinate lyase (encoded by Asl) deficiency has a distinct phenotype of multiorgan dysfunction and NO deficiency. Loss of Asl in both humans and mice leads to reduced NO synthesis, owing to both decreased endogenous arginine synthesis and an ...
https://einstein.pure.elsevier.com/en/publications/requirement-of-argininosuccinate-lyase-for-systemic-nitric-oxide--2
Publications | Newborn Screening | Health & Senior ServicesPublications | Newborn Screening | Health & Senior Services
Newborn Screening, Newborn, Newborn screening, Newborn screens, Expanded screening, Expanded newborn screening, Blood spot, Blood spot screening, Blood test, Tests for newborns, Genetic, Genetics, Genetic diseases, Genetic disorders, Genetic conditions, Genetic counseling, Genetic testing, Genetic screening, Birth defects, Diseases, Hereditary diseases, Inherited diseases, Cystic Fibrosis, CF, Hemophilia, Galactosemia, MSUD, Maple syrup urine disease, Hypothyroidism, PKU, Phenylketonuria, PKU formula, Formula, Metabolic formula, Metabolic, Metabolic conditions, Congenital Adrenal Hyperplasia, CAH, Sickle cell, Sickle cell anemia, Sickle cell disease, Sickle cell trait, Amino acid disorders, Argininosuccinic aciduria, Citrullinemia, Homocystinuria (cystathione synthase deficiency), Hypermethioninemia, Tyrosinemia, type II (TYRII), Fatty acid oxidation disorders, Carnitine/acylcarnitine translocase defect, Carnitine palmitoyl transferase deficiency (SCAD), Long-chain hydroxy acyl-CoA dehydrogenase
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Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate...Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate...
Pathogenic variants in the argininosuccinate lyase (|i|ASL|/i|) gene have been shown to cause argininosuccinate lyase deficiency (ASLD); therefore, sequencing analysis offers advantages for prenatal testing and counseling in families afflicted with this condition. Here, we performed a genetic analysis of an ASLD patient and his family with an aim to offer available information for clinical diagnosis. The research subjects were a 23-month-old patient with a high plasma level of citrulline and his unaffected parents. Whole-exome sequencing identified potential related|i| ASL|/i| gene mutations in this trio. Enzymatic activity was detected spectrophotometrically by a coupled assay using arginase and measuring urea production. We identified a novel nonsynonymous mutation (c.206A>G, p.Lys69Arg) and a stop mutation (c.637C>T, p.Arg213∗) in|i| ASL|/i| in a Chinese Han patient with ASLD. The enzymatic activity of a p.Lys69Arg ASL construct in human embryonic kidney 293T cells was significantly
https://www.hindawi.com/journals/bmri/2019/3530198/
Argininosuccinate lyase interacts with cyclin A2 in cytoplasm and modulates growth of liver tumor cells<...
TY - JOUR. T1 - Argininosuccinate lyase interacts with cyclin A2 in cytoplasm and modulates growth of liver tumor cells. AU - Hung, Yu Hsuan. AU - Huang, Hau Lun. AU - Chen, Wei Ching. AU - Yen, Meng Chi. AU - Cho, Chien Yu. AU - Weng, Tzu Yang. AU - Wang, Chih Yang. AU - Chen, Yi Ling. AU - Chen, Li Tzong. AU - Lai, Ming Derg. PY - 2017/2. Y1 - 2017/2. N2 - Arginine is a critical amino acid in specific cancer types including hepatocellular carcinoma (HCC) and melanoma. Novel molecular mechanisms and therapeutic targets in arginine metabolism-mediated cancer formation await further identification. Our laboratory has previously demonstrated that arginine metabolic enzyme argininosuccinate lyase (ASL) promoted HCC formation in part via maintenance of cyclin A2 protein expression and arginine production for channeling to nitric oxide synthase. In this study, we investigated the mechanism by which ASL regulates cyclin A2 expression. We found that ASL interacted with cyclin A2 in HCC cells and the ...
https://researchoutput.ncku.edu.tw/en/publications/argininosuccinate-lyase-interacts-with-cyclin-a2-in-cytoplasm-and
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HHMI-Sponsored UD Undergraduates at the Experimental Biology Meetings, Orlando 2001HHMI-Sponsored UD Undergraduates at the Experimental Biology Meetings, Orlando 2001
Adenylosuccinate lyase (ASL) catalyzes 2 reactions in the de novo synthesis of purine nucleotides. In humans, point mutations of this enzyme are associated with mental retardation, autism, and muscle wasting. The sequence of B. subtilis ASL is 27% identical and 17% similar to the human enzyme. We have cloned, expressed, and purified B. subtilis ASL; the crystal structure of a 73% homologous bacterial enzyme is known (PDB #lc3u). We separately mutated 2 amino acids in the B. subtilis ASL (M10L & N276C) equivalent to the mutations identified in human ASL deficiency (M26L & R303C). The purified M10L and N276C possess specific activities of 0.86 and 0.38 units/mg, respectively, as compared to 1.56 units/mg for wild type (WT) enzyme. Both enzymes are similar to WT in conformation and oligomeric state as indicated by circular dichroism and light scattering. The Km for adenylosuccinate (SAMP) is not appreciably different between M1OL (5.6 uM) and WT (4.9 uM); and the pH dependence of Vmax is also ...
http://www1.udel.edu/chem/white/HHMI/Orlando2001a.htm
17 alpha-hydroxylase/17,20-lyase deficiency: MedlinePlus Genetics17 alpha-hydroxylase/17,20-lyase deficiency: MedlinePlus Genetics
17α-hydroxylase/17,20-lyase deficiency is caused by mutations in the CYP17A1 gene. The protein produced from this gene is involved in the formation of steroid hormones. This group of hormones includes sex hormones such as testosterone and estrogen, which are needed for normal sexual development and reproduction; mineralocorticoids, which help regulate the bodys salt and water balance; and glucocorticoids, which are involved in maintaining blood sugar levels and regulating the bodys response to stress.. Steroid hormones are produced through a series of chemical reactions. The CYP17A1 enzyme performs two important reactions in this process. The enzyme has 17 alpha(α)-hydroxylase activity, which is important for production of glucocorticoids and sex hormones. CYP17A1 also has 17,20-lyase activity, which is integral to the production of sex hormones.. 17α-hydroxylase/17,20-lyase deficiency results from a shortage (deficiency) of both enzyme activities. The amount of remaining enzyme activity ...
https://medlineplus.gov/genetics/condition/17-alpha-hydroxylase-17-20-lyase-deficiency/
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Natural cure for Adenylosuccinate lyase deficiency and alternative treatments
Get natural cures for Adenylosuccinate lyase deficiency that can make a difference in your life or the life of someone you love with alternative treatments.
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Interest In How Eye Tracking Can Help You - Usability, Human Factors, Accessibility, IA, Conversions, UCD - Cre8asiteforums
Hi All, I am not sure if this is the best place to post this, so apologies if it is not. As I said in my introduction post I am currently doing some work f...
https://www.cre8asiteforums.com/topic/82569-interest-in-how-eye-tracking-can-help-you/?tab=comments
Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle...Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle...
PROTOCOL OUTLINE: This protocol describes several clinical studies of pharmacologic and dietary management in patients with urea cycle disorders.. Patients with carbamyl phosphate synthetase and ornithine transcarbamylase deficiency are treated with a low-protein diet, essential amino acids (for neonatal onset disease), caloric supplementation, oral sodium phenylbutyrate (now approved as a prescription drug 11/97), and citrulline or arginine free base.. Patients with argininosuccinic acid synthetase deficiency are treated with a low-protein diet, caloric supplementation, oral sodium phenylbutyrate (now approved as a prescription drug 11/97), and arginine free base.. Patients with argininosuccinic aciduria (AA) are treated with a low-protein diet, caloric supplementation, and arginine free base. (Discontinued 11/97) Any patient who develops hyperammonemia is treated with intravenous sodium benzoate, sodium phenylbutyrate, and arginine hydrochloride; benzoate and phenylbutyrate are not given to ...
https://clinicaltrials.gov/ct2/show/study/NCT00004767?view=results
Meet the 21st Amino Acid - Selenocysteine - The Paradigm Shift Group
So now there are 21 proteogenic amino acids…right?. Actually, there are 22 of them discovered till now. The last one is named Pyrrolysine, but it makes proteins only in prokaryotes (methanogenic archaea and bacteria).. So is there any other amino acids that are not PROTEOGENIC?. The proteogenic pool of amino acid is only a small part of the whole amino acid pool. There are many times more amino acids that dont produce proteins. Usually, the amino acids that dont have any associated genetic code wont produce proteins (they cant take part in translation), and so are non-proteogenic.. This is quite logical. Any organic molecule having at least one of each amine and carboxyl group can be called an amino acid and we have only limited number of genetic codes.. Examples of non-proteogenic amino acids are - ornithine, citrulline etc. in hepatic metabolism. The argininosuccinic acid in the urea cycle, S-adenosylmethionine, azaserine in streptomycin, synthetically produced (at least commercially) ...
https://theparadigmshiftgroup.com/meet-21st-amino-acid-selenocysteine/
Argininosuccinate synthase 1 is an intrinsic Akt repressor transactivated by p53 | Science AdvancesArgininosuccinate synthase 1 is an intrinsic Akt repressor transactivated by p53 | Science Advances
Although accumulating evidence highlights the importance of p53-mediated metabolism in tumor suppression (2, 47), the mechanisms by which p53 drives dynamic nutrient status in harmony with canonical p53 functions remain poorly understood. Here, we show that p53 activates the penultimate step of de novo arginine synthesis pathway through the direct induction of the rate-limiting enzyme ASS1. Furthermore, we demonstrate that ASS1 deficiency induced anomalous Akt phosphorylation, resulting in rendering cells more susceptible to genotoxic stress.. Although we have demonstrated that p53 drives the de novo arginine synthesis pathway via ASS1 induction under genotoxic conditions, argininosuccinate lyase (ASL), which directly produces arginine from argininosuccinate, was not induced by p53 in HCT116 cells. These results suggest that ASS1 is the sole node connecting p53 to the de novo arginine synthesis pathway. Because ASS1 is a rate-limiting enzyme of the de novo arginine synthesis pathway, ASS1 ...
http://d3a5ak6v9sb99l.cloudfront.net/content/3/5/e1603204.full
argH - Argininosuccinate lyase - Acidovorax sp. (strain JS42) - argH gene & proteinargH - Argininosuccinate lyase - Acidovorax sp. (strain JS42) - argH gene & protein
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class=publication>Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href=http://www.nrbook.com/b/bookcpdf.php>Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
https://www.uniprot.org/uniprot/A1WB09
Most recent papers with the keyword Inborn errors of metabolism | Read by QxMDMost recent papers with the keyword Inborn errors of metabolism | Read by QxMD
Inborn errors of metabolism (IEM) comprise a group of over 600 disorders, each with a specific metabolic impairment due to a genetic defect. Urea cycle disorders (UCD) are IEM that affect the nitrogen disposal system, leading to hyperammonemia and the accumulation of other toxic metabolites in tissues of affected patients. UCD arise from mutations in the genes coding any of the enzymes participating in the urea cycle, either directly or as regulators of this pathway, causing severe respiratory alkalosis. Considering that the exact mechanisms underlying the damage found in UCD, the purpose of this minireview is to obtain data and search for links between UCD and oxidative stress, a phenomenon common to several IEM ...
https://www.readbyqxmd.com/keyword/11001
sg:pub.10.1007/s10295-015-1692-8 - Springer Nature SciGraphsg:pub.10.1007/s10295-015-1692-8 - Springer Nature SciGraph
context: https://springernature.github.io/scigraph/jsonld/sgcontext.json, about: [ { id: http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604, inDefinedTermSet: http://purl.org/au-research/vocabulary/anzsrc-for/2008/, name: Genetics, type: DefinedTerm }, { id: http://purl.org/au-research/vocabulary/anzsrc-for/2008/06, inDefinedTermSet: http://purl.org/au-research/vocabulary/anzsrc-for/2008/, name: Biological Sciences, type: DefinedTerm }, { inDefinedTermSet: https://www.nlm.nih.gov/mesh/, name: Arginine, type: DefinedTerm }, { inDefinedTermSet: https://www.nlm.nih.gov/mesh/, name: Argininosuccinate Lyase, type: DefinedTerm }, { inDefinedTermSet: https://www.nlm.nih.gov/mesh/, name: Argininosuccinate Synthase, type: DefinedTerm }, { inDefinedTermSet: https://www.nlm.nih.gov/mesh/, name: Bacterial Proteins, type: DefinedTerm }, { inDefinedTermSet: https://www.nlm.nih.gov/mesh/, name: Biosynthetic ...
https://scigraph.springernature.com/pub.10.1007/s10295-015-1692-8
B3ECP3 | SWISS-MODEL Repository
SWISS-MODEL Repository entry for B3ECP3 (ARLY_CHLL2), Argininosuccinate lyase. Chlorobium limicola (strain DSM 245 / NBRC 103803 / 6330)
https://swissmodel.expasy.org/repository/uniprot/B3ECP3
UCD Digital LibraryUCD Digital Library
Urea Cycle Disorders - Market Insights, Epidemiology and Market Forecast - 2025 : ReportsnReports
[70 Pages Report] Check for Discount on Urea Cycle Disorders - Market Insights, Epidemiology and Market Forecast - 2025 report by Delve Insight. DelveInsight s Urea Cycle Disorders - Market Insights, Epidemiology and Market...
http://www.reportsnreports.com/reports/1142876-urea-cycle-disorders-market-insights-epidemiology-and-market-forecast-2025.html
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene - Zurich Open Repository and ArchiveMutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene - Zurich Open Repository and Archive
Citrullinemia type I is an autosomal recessive disorder that is caused by a deficiency of the urea cycle enzyme argininosuccinate synthetase (ASS1). Deficiency of ASS1 shows various clinical manifestations encompassing severely affected patients with fatal neonatal hyperammonemia as well as asymptomatic individuals with only a biochemical phenotype. This is a comprehensive report of all 87 mutations found to date in the ASS1 gene on chromosome 9q34.1. A large proportion of the mutations (n=27) are described here for the first time. Mutations are distributed throughout exons 3 to 15, most of them being identified in exons 5, 12, 13, and 14. The mutation G390R in exon 15 is the single most common mutation in patients with the classical phenotype. Certain mutations clearly link to specific clinical courses but the clinical phenotype cannot be anticipated in all patients. This update presents a survey of the correlation between mutations in the ASS1 gene and the respective clinical courses as ...
http://www.zora.uzh.ch/id/eprint/28344/
Cytonets Liver Cell Therapy May Be Effective in Stabilizing Children with Severe Urea Cycle Disorders Awaiting Liver...Cytonets Liver Cell Therapy May Be Effective in Stabilizing Children with Severe Urea Cycle Disorders Awaiting Liver...
Cytonet announced today that new research on its investigational liver cell therapy (LCT) was presented on July 27, 2014 at the 2014 World Transplant
https://www.businesswire.com/news/topix/20140728005529/en
Groups of Disorders - ClimbGroups of Disorders - Climb
A urea cycle disorder (UCD) is a genetic (hereditary) disorder caused by a mutation (alteration) in a gene that results in one of the six enzymes in the urea cycle in the liver to not work properly. The urea cycle changes waste ammonia, which is potentially toxic (poisonous), to a compound called urea which is then removed from the body in the urine.. In UCDs, one of the enzymes in the cycle does not work properly. Without all the enzymes working as they should, the process cant be completed and ammonia builds up in the blood, a process called Hyperammonemia. This process can lead to a Hyperammonemic crisis (HAC) which is a highly toxic condition and can cause a range of behavioral problems and other symptoms. If enough ammonia builds up in the blood, it can affect the brain, and may cause irreversible brain damage, coma or death.. UCDs are rare, affecting 2,100 people in Europe. The US incidence is thought to be one UCD patient for every 35,000 births, representing about 113 new patients each ...
http://www.climb.org.uk/disorders/groups-of-disorders/
A Novel SLC25A15 Mmutation Causing Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperornithinemia-hyperammonemia-homocitrullinuria 증후군을 유발하는 SLC25A15 유전자의 새로운 변이 - HHH syndrome;Urea cycle disorders;SLC25A15;Genetics
https://www.kci.go.kr/kciportal/ci/sereArticleSearch/ciSereArtiView.kci?sereArticleSearchBean.artiId=ART002267812
Long-term complications of ovarian cysts - All information about cysts
For long-term complications of ovarian cysts include those States that have long remain latent and asymptomatic. But they are no less dangerous.
https://allcysts.com/long-term-complications-of-ovarian-cysts/
Cardio Box at UCD Sport and Fitness - WorkoutClub24Cardio Box at UCD Sport and Fitness - WorkoutClub24
Cardio Box is designed to be a stress busting, anaerobic strength class that teaches the basics of boxing. Classes are set up in a station based format that ...
http://workoutclub24.com/fitness-video/cardio-box-at-ucd-sport-and-fitness/
Oxygen Club of California - World Congress 2014Oxygen Club of California - World Congress 2014
The conference, hosted by the Department of Nutrition, University of California Davis, will be held at the UCD Conference Center.. The program (coming soon) includes the following sessions:. ...
http://oxyclubcalifornia.org/OCC2014/index.php
Southwestern Community College Summer Session 2015
Information about Southwestern Community College summer session 2015, registering in a technical degree program to develop job skills, or just learning how to make extra money online.
http://www.southwesterncommunitycollege.org/Southwestern-Community-College-summer-session-2015.php
MedLabs GroupMedLabs Group
Amino Acid Disorders. Phenylketonuria (PKU). Maple Syrup Urine Disease (MSUD). Homocystinuria Tyrosinemia Type I. Tyrosinemia Type II. Tyrosinemia Type III. Argininosuccinic Aciduria Citrullinemia (Argininosuccinic Synthetase Deficiency). Argininemia. Histidinemia. Hyperornithinemia. Hyper/Hypomethioninemia. 5-Oxoprolinuria (Pyroglutamic Aciduria). Fatty Acid Disorders. Carnitine Palmytoyltransferase Deficiency Type I. Carnitine Palmytoyltransferase Deficiency Type II. Carnitine / Acylcarnitine Translocase Deficiency (CACT). Carnitine Uptake Deficiency (CUD). Trifunctional Protein Deficiency. Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD). Long Chain 3-Hydroxy Acyl -CoA Dehydrogenase Deficiency (LCHADD). Medium Chain Acyl - CoA Dehydrogenase Deficiency (MCADD). 3-Hydroxy Acyl -CoA Dehydrogenase Deficiency (M/SCHADD). Short Chain Acyl-CoA Dehydrogenase Deficiency (SCADD). Glutamic Aciduria Type II (MADD). Ethylmalonic Aciduria 2,4 Dienoyl - CoA Reductase Deficiency Organic Acid ...
https://medlabsgroup.com/Default.aspx?Lng=1&P=nsc&Q=66&ID=7
Welcome to the National Urea Cycle Disorders FoundationWelcome to the National Urea Cycle Disorders Foundation
The National Urea Cycle Disorders Foundation is lifeline of information and support for all those affected by urea cycle disorders. NUCDF is nonprofit organization committed to saving the lives of children and adults with urea cycle disorder. NUCDF is the leader in the identification, treatment and cure of urea cycle disorders; raising awareness, supporting urea cycle disorder research and creating a caring community for patients and families.
http://www.nucdf.org
Biomarkers for urea cycle disorders (Homo sapiens) - WikiPathwaysBiomarkers for urea cycle disorders (Homo sapiens) - WikiPathways
Urea cycle disorders are caused by enzyme defects in the Urea cycle (WP4571). The diseases are characterised by hyperammonemia, respiratory alkalosis and encephalopathy and the severity of the disease depends on the severity of the defect and the place of the defect in the cycle. Severe forms usually have an onset in infancy, while mild forms can also present in adulthood. The diagnosis of Urea cycle disorders is based on altered concentrations of different metabolic biochemical markers. Some of these markers are metabolites in Urea cycle, but there are also several other markers, that are either indirectly or not related to the Urea cycle. All metabolic markers used for the diagnosis of at least one Urea cycle disorder and their relations are visualized in this pathway. Biochemical markers derived from http://www.iembase.org/, for all diseases pictured in WP4571. ...
https://www.wikipathways.org/index.php?title=Pathway:WP4583&direction=prev&oldid=104141
Relief Provides Update on Progress and Plans with ACER-001 for the Treatment of Urea Cycle DisordersRelief Provides Update on Progress and Plans with ACER-001 for the Treatment of Urea Cycle Disorders
GENEVA, SWITZERLAND / ACCESSWIRE / May 18, 2021 / RELIEF THERAPEUTICS Holding AG (SIX:RLF, OTCQB:RLFTF)(Relief), a biopharmaceutical company with its lead compound RLF-100TM (aviptadil) in advanced clinical development to treat severe COVID-19 patients, today provided an update on the development of ACER-001, a proprietary powder formulation of sodium phenylbutyrate (NaPB) designed to be both taste-masked and immediate release, in the lead indication, urea cycle disorders (UCDs). UCDs are a group of rare genetic metabolic disorders which can lead to an excess accumulation of ammonia in the bloodstream, causing different symptoms such as somnolence, coma, and, in the worst case, may lead to multi-organ failure.
https://www.yahoo.com/now/relief-provides-progress-plans-acer-052000488.html
Urea Cycle Disorders: Causes, Symptoms, Diagnosis, TreatmentUrea Cycle Disorders: Causes, Symptoms, Diagnosis, Treatment
Urea cycle disorders are inherited metabolic disorders makes it hard for your body to break down proteins. Learn more about symptoms, emergency treatment, and long-term management.
https://www.webmd.com/children/urea-cycle-disorders
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder - Fingerprint -...Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder - Fingerprint -...
Fingerprint Dive into the research topics of Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. Together they form a unique fingerprint. ...
https://ohsu.pure.elsevier.com/en/publications/blood-ammonia-and-glutamine-as-predictors-of-hyperammonemic-crise-2/fingerprints/
Test | Invitae Urea Cycle Disorders PanelTest | Invitae Urea Cycle Disorders Panel
Genetic testing for up to 15 genes that encode the enzymes and transporter proteins involved in the biochemical reactions of the urea cycle.
https://www.invitae.com/es/physician/tests/06212/?cat=CAT000056
international languages ucdinternational languages ucd
Interpretation is offered in Japanese and German as … The School brings together the disciplines of French, German, Italian, Linguistics, Spanish and Portuguese. What is more important is how you rank these schools based on academics, social life and financial costs. UCD is Irelands leader in graduate education with over 9,500 graduate students benefitting from the research-led education culture at UCD. With the exception of French (H4 requirement), you have the option to study these languages from beginner level. Students with U.S. bachelors degrees or equivalent degrees from institutions of recognized standing in other countries may apply for admission to Graduate Studies. European Studies examines the significance of Europe through history, languages, literatures and cultures, focusing on processes of change, including migration, war and integration. English Language Centre at UCD. focused in Business and International Languages from National College of Ireland. Working with colleagues ...
https://patriciabarber.com/my-afternoons-xfxp/33fc87-international-languages-ucd
Synlogic Receives Fast Track Designation in U.S. for Lead Candidate, SYNB1020 | Business WireSynlogic Receives Fast Track Designation in U.S. for Lead Candidate, SYNB1020 | Business Wire
Synlogic granted Fast Track Designation from the FDA for investigational Synthetic Biotic medicine, SYNB1020, as a treatment for urea cycle disorders.
https://www.businesswire.com/news/home/20170626005276/en/synlogic-receives-fast-track-designation-u.s.-lead
Ketogenic flux from lipids and leucine, assessment in 3-hydroxy-3-methylglutaryl CoA lyase deficiency | Biochemical Society...Ketogenic flux from lipids and leucine, assessment in 3-hydroxy-3-methylglutaryl CoA lyase deficiency | Biochemical Society...
Thank you for your interest in spreading the word about Biochemical Society Transactions.. NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.. ...
http://www.biochemsoctrans.org/content/23/3/489S
Idaho Medical Home Portal - HMG-CoA Lyase DeficiencyIdaho Medical Home Portal - HMG-CoA Lyase Deficiency
Information, Tools, and Resources to aid Primary Care Physicians in caring for Children with Special Health Care Needs (CSHCN) and providing a Medical Home for all of their patients.
https://id.medicalhomeportal.org/newborn/hmg-coa-lyase-deficiency
pcampeau
Pediatr Neurol. 2007 Jul;37(1):47-50. 3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment. Zafeiriou DI, Vargiami E, Mayapetek E, Augoustidou-Savvopoulou P, Mitchell GA. Â In this paper, the authors describe a patient with HMG-CoA Lyase deficiency. He initially presented at 8 months with seizures during a gastroenteritis; he had hepatomegaly and elevated […]. ...
https://ommbidblog.com/author/pcampeau/page/6/
Argininosuccinic aciduriaArgininosuccinic aciduria
Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases ... Argininosuccinic aciduria is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") ... Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life ... An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly controlled breathing rate or ...
https://en.wikipedia.org/wiki/Argininosuccinic_aciduria
Argininosuccinate lyaseArgininosuccinate lyase
... which can explain the developmental delay in argininosuccinic aciduria patients. One mutation in patients with argininosuccinic ... Mutations in the human ASL gene causes argininosuccinic aciduria, a rare autosomal recessive disorder, and results in ... aciduria occurs when glutamine 286 is mutated to arginine. The enzyme now has a positively charged arginine in place of a ...
https://en.wikipedia.org/wiki/Argininosuccinate_lyase
Charles Enrique DentCharles Enrique Dent
He also defined new amino-acid diseases such as various forms of Fanconi syndrome, Hartnup disease, argininosuccinic aciduria ...
https://en.wikipedia.org/wiki/Charles_Enrique_Dent
Urea cycleUrea cycle
Deficiency of argininosuccinic acid synthase) Argininosuccinic aciduria (Deficiency of argininosuccinic acid lyase) Argininemia ... Most urea cycle disorders are associated with hyperammonemia, however argininemia and some forms of argininosuccinic aciduria ...
https://en.wikipedia.org/wiki/Urea_cycle
Trichorrhexis nodosaTrichorrhexis nodosa
In some cases, trichorrhexis nodosa may be caused by an underlying disorder such as argininosuccinic aciduria, Menkes' kinky ...
https://en.wikipedia.org/wiki/Trichorrhexis_nodosa
List of OMIM disorder codesList of OMIM disorder codes
ARG1 Argininosuccinic aciduria; 207900; ASL Aromatase deficiency; 613546; CYP19A1 Aromatase excess syndrome; 139300; CYP19A1 ... AUH 3-Methylglutaconic aciduria type III; 258501; OPA3 3-Methylglutaconic aciduria type V; 610198; DNAJC19 46XX true ... MTR Methylmalonic aciduria and homocystinuria, cblC type; 277400; MMACHC Methylmalonic aciduria and homocystinuria, cblD type; ... LMBRD1 Methylmalonic aciduria due to transcobalamin receptor defect; 613646; CD320 Methylmalonic aciduria, cblD type, variant 2 ...
https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes
List of disorders included in newborn screening programsList of disorders included in newborn screening programs
1 in 100,000 Argininosuccinic aciduria (ASA) < 1 in 100,000 Citrullinemia (CIT) < 1 in 100,000 Phenylketonuria (PKU) > 1 in ... 1 in 75,000 Methylmalonic aciduria, cblA and cblB forms (MMA, Cbl A,B) < 1 in 100,000 Beta-ketothiolase deficiency (BKT) < 1 in ... Malonic acidemia 2-Methyl 3-hydroxy butyric aciduria Isobutyryl-CoA dehydrogenase deficiency 2-Methylbutyryl-CoA dehydrogenase ...
https://en.wikipedia.org/wiki/List_of_disorders_included_in_newborn_screening_programs
List of lay Catholic scientistsList of lay Catholic scientists
... argininosuccinic aciduria and homocystinuria César-Mansuète Despretz (1791-1863) - chemist and physicist who investigated ...
https://en.wikipedia.org/wiki/List_of_lay_Catholic_scientists
ASAASA
... antibodies against sperm antigens Argininosuccinic aciduria, a disorder of the urea cycle ASA physical status classification ...
https://en.wikipedia.org/wiki/ASA
Chromosome 7Chromosome 7
... argininosuccinic aciduria cerebral cavernous malformation Charcot-Marie-Tooth disease Cholestasis, progressive familial ...
https://en.wikipedia.org/wiki/Chromosome_7
Newborn screeningNewborn screening
Disorders of the distal urea cycle, such as citrullinemia, argininosuccinic aciduria and argininemia are included in newborn ...
https://en.wikipedia.org/wiki/Newborn_screening
List of diseases (A)List of diseases (A)
Argentine hemorrhagic fever Arginase deficiency Arginemia Argininosuccinate synthetase deficiency Argininosuccinic aciduria ...
https://en.wikipedia.org/wiki/List_of_diseases_(A)
2014 Ju-Jitsu World Championships2014 Ju-Jitsu World Championships
The 2014 Ju-Jitsu World Championship were the 12th edition of the Ju-Jitsu World Championships, and were held in Paris, France from November 28 to November 30, 2014. 28.11.2014 - Men's and Women's Fighting System, Men's and Women's Jiu-Jitsu (ne-waza), Men's Duo System - Classic 29.11.2014 - Men's and Women's Fighting System, Men's and Women's Jiu-Jitsu (ne-waza), Women's Duo System - Classic 30.11.2014 - Men's Jiu-Jitsu (ne-waza), Mixed Duo System - Classic, Team event Vincent MATCZAK (2014-09-30). "4TH INVITAION TO WORLD CHAMPIONSHIP 2014" (PDF). Retrieved 2019-11-28.[dead link] Online results Official results (PDF) Mixed team event results (PDF) (All articles with dead external links, Articles with dead external links from April 2022, Ju-Jitsu World Championships, 2014 in French sport ...
https://en.wikipedia.org/wiki/2014_Ju-Jitsu_World_Championships
Bolley JohnsonBolley Johnson
Bolley L. "Bo" Johnson (born November 15, 1951) is an American politician from the state of Florida. A member of the Democratic Party, Johnson was a member of the Florida House of Representatives, and served as the Speaker of the Florida House of Representatives. Johnson is from Milton, Florida. His father and grandfather served as county commissioners for Santa Rosa County, Florida. Johnson graduated from Milton High School, and became the first member of his family to attend college. He received his bachelor's degree from Florida State University. Johnson volunteered for Mallory Horne when Horne served as the president of the Florida Senate. At the age of 22, Johnson met Lawton Chiles, then a member of the United States Senate, who hired him as a legislative aide in 1973. Johnson was elected to the Florida House of Representatives, representing the 4th district from November 7, 1978 to November 3, 1992. He also served the 1st district from November 3, 1992 to November 8, 1994. He became the ...
https://en.wikipedia.org/wiki/Bolley_Johnson
Dont Say NoDon't Say No
... may refer to: Don't Say No (Billy Squier album), a 1981 album by American rock singer Billy Squier, and its title track Don't Say No (Seohyun EP), a 2016 extended play by South Korean pop singer Seohyun, and its title track "Don't Say No" (Tom Tom Club song), from the 1988 album Boom Boom Chi Boom Boom "Don't Say No", by Robbie Williams from the 2005 album Intensive Care "Don't Say No Tonight", a 1985 single by Eugene Wilde This disambiguation page lists articles associated with the title Don't Say No. If an internal link led you here, you may wish to change the link to point directly to the intended article. (Disambiguation pages with short descriptions, Short description is different from Wikidata, All article disambiguation pages, All disambiguation pages, Disambiguation pages ...
https://en.wikipedia.org/wiki/Don't_Say_No
Dewoitine D.371Dewoitine D.371
The Dewoitine 37 was the first of a family of 1930s French-built monoplane fighter aircraft. The D.37 was a single-seat aircraft of conventional configuration. Its fixed landing gear used a tailskid. The open cockpit was located slightly aft of the parasol wing. The radial engine allowed for a comparatively wide fuselage and cockpit. Design of this machine was by SAF-Avions Dewoitine but owing to over work at that companies plant at the time, manufacture of the D.37/01 was transferred to Lioré et Olivier. They were high-wing monoplanes of all-metal construction with valve head blisters on their engine cowlings. The first prototype flew in October 1931. Flight testing resulted in the need for multiple revisions in both engine and airframe, so it was February 1934 before the second prototype flew. Its performance prompted the French government to order for 28 for the Armée de l'Air and Aéronavale. The Lithuanian government ordered 14 that remained in service with their Air Force until 1936, ...
https://en.wikipedia.org/wiki/Dewoitine_D.371
Noor-ul-AinNoor-ul-Ain
The Noor-ul-Ain (Persian: نور العين, lit. 'the light of the eye') is one of the largest pink diamonds in the world, and the centre piece of the tiara of the same name. The diamond is believed to have been recovered from the mines of Golconda, Hyderabad in India. It was first in possession with the nizam Abul Hasan Qutb Shah, later it was given as a peace offering to the Mughal emperor Aurangazeb when he defeated him in a siege. It was brought into the Iranian Imperial collection after the Persian king Nader Shah Afshar looted Delhi in the 18th century.[citation needed] The Noor-ul-Ain is believed to have once formed part of an even larger gem called the Great Table diamond. That larger diamond is thought to have been cut in two, with one section becoming the Noor-ul-Ain and the other the Daria-i-Noor diamond. Both of these pieces are currently part of the Iranian Crown Jewels. The Noor-ul-Ain is the principal diamond mounted in a tiara of the same name made for Iranian Empress Farah ...
https://en.wikipedia.org/wiki/Noor-ul-Ain
Benoist Land Tractor Type XIIBenoist Land Tractor Type XII
The Benoist Land Tractor Type XII was one of the first enclosed cockpit, tractor configuration aircraft built. Benoist used "Model XII" to several aircraft that shared the same basic engine and wing design, but differed in fuselage and control surfaces. The Type XII was a tractor-engined conversion of the model XII headless pusher aircraft that resembled the Curtiss pusher aircraft. Demonstration pilots used Benoist aircraft to demonstrate the first parachute jumps, and the tractor configuration was considered much more suitable for the task. The first example named the "Military Plane" had a small box frame covered fuselage that left the occupants mostly exposed to the wind. The later model XII "Cross Country Plane" had a full fuselage that occupants sat inside of. The first tractor biplane used a wooden fuselage with a small seat on top. The wings were covered with a Goodyear rubberized cloth. The first model XII was built in the spring of 1912. On 1 March 1912, Albert Berry used a headless ...
https://en.wikipedia.org/wiki/Benoist_Land_Tractor_Type_XII
Santa Cruz BarillasSanta Cruz Barillas
... (also known as Yalmotx in Qʼanjobʼal) is a town, with a population of 17,166 (2018 census), and a municipality in the Guatemalan department of Huehuetenango. It is situated at 1450 metres above sea level. It covers a terrain of 1,174 km². The annual festival is April 29-May 4. Barillas has a tropical rainforest climate (Af) with heavy to very heavy rainfall year-round and extremely heavy rainfall from June to August. Citypopulation.de Population of departments and municipalities in Guatemala Citypopulation.de Population of cities & towns in Guatemala "Climate: Barillas". Climate-Data.org. Retrieved July 26, 2020. Muni in Spanish Website of Santa Cruz Barillas Coordinates: 15°48′05″N 91°18′45″W / 15.8014°N 91.3125°W / 15.8014; -91.3125 v t e (Articles with short description, Short description is different from Wikidata, Pages using infobox settlement with no coordinates, Articles containing Q'anjob'al-language text, Coordinates on Wikidata, ...
https://en.wikipedia.org/wiki/Santa_Cruz_Barillas
Maria Margaret PollenMaria Margaret Pollen
Maria Margaret La Primaudaye Pollen (10 April 1838 - c. 1919), known as Minnie, was a decorative arts collector. As Mrs John Hungerford Pollen, she became known during the early-twentieth century as an authority on the history of textiles, publishing Seven Centuries of Lace in 1908. Maria Margaret La Primaudaye was born into a Huguenot family on 10 April 1838, the third child of the Revd Charles John La Primaudaye, a descendant of Pierre de La Primaudaye. She was educated in Italy. Her family converted to Catholicism in 1851, and it was in Rome that her father met another recent English convert, John Hungerford Pollen, previously an Anglican priest and a decorative artist. She became engaged to Pollen, who was then seventeen years her senior, in the summer of 1854, and was married in the church of Woodchester monastery, near Stroud, Gloucester, on 18 September 1855. The Pollens initially settled in Dublin, where John Hungerford Pollen had been offered the professorship of fine arts at the ...
https://en.wikipedia.org/wiki/Maria_Margaret_Pollen
Ronald FoglemanRonald Fogleman
Ronald Robert Fogleman (born January 27, 1942) is a retired United States Air Force general who served as the 15th Chief of Staff of the Air Force from 1994 to 1997 and as Commanding General of the United States Transportation Command from 1992 to 1994. A 1963 graduate from the United States Air Force Academy, he holds a master's degree in military history and political science from Duke University. A command pilot and a parachutist, he amassed more than 6,800 flying hours in fighter, transport, tanker and rotary wing aircraft. He flew 315 combat missions and logged 806 hours of combat flying in fighter aircraft. Eighty of his missions during the Vietnam War were as a "Misty FAC" in the F-100F Super Sabre at Phù Cát Air Base, South Vietnam between 25 December 1968 and 23 April 1969. Fogleman was shot down in Vietnam in 1968, while piloting an F-100. He was rescued by clinging to an AH-1 Cobra attack helicopter that landed at the crash site. In early assignments he instructed student pilots, ...
https://en.wikipedia.org/wiki/Ronald_Fogleman
Peachtree Street (song)Peachtree Street (song)
Peachtree Street" is a 1950 song co-written and recorded by Frank Sinatra in a duet with Rosemary Clooney. The song was released as a Columbia Records single. Frank Sinatra co-wrote the song with Leni Mason and Jimmy Saunders. Mason composed the music while Sinatra and Saunders wrote the lyrics. The song was arranged by George Siravo The song was released as an A side Columbia 10" 78 single, Catalog Number 38853, Matrix Number CO-43100-1 and as a 7" 33, 1-669. The B side was the re-issued "This Is the Night." Neither of the songs charted. The subject of the song is a stroll down the street in Atlanta, Georgia of the same name. Sinatra originally intended Dinah Shore to sing the duet with him. When Shore declined, Clooney was asked. The song was recorded on April 8, 1950. The song features spoken asides by Sinatra and Clooney. Rosemary Clooney asks: "Say, Frank, you wanna take a walk?" Frank Sinatra replies: "Sure, sweetie, just pick a street." He noted how there were no peach trees on the ...
https://en.wikipedia.org/wiki/Peachtree_Street_(song)
We, Too, Have a Job to DoWe, Too, Have a Job to Do
... is a painting by American illustrator Norman Rockwell that depicts a Boy Scout in full uniform standing in front of a waving American flag. It was originally created by Rockwell in 1942 for the 1944 Brown & Bigelow Boy Scout Calendar. The model, Bob Hamilton, won a contest to be in the painting and personally delivered a print to the Vice President of the United States at the time, Henry A. Wallace. The painting was created to encourage Scouts to participate in the war effort during World War II. The name of the painting, We, Too, Have a Job to Do, comes from a slogan that the Boy Scouts of America used in 1942 to rally scouts to support the troops by collecting metal and planting victory gardens. The model, Bob Hamilton, won a contest with his local council in Albany, New York, to be depicted in the painting. He traveled to Rockwell's studio in Arlington, Vermont, to model for Rockwell. Since Hamilton was a scout, the uniform shown in the painting was his, unlike some ...
https://en.wikipedia.org/wiki/We,_Too,_Have_a_Job_to_Do
2021 Akkar explosion2021 Akkar explosion
At least 33[failed verification] people were killed by a fuel tanker explosion in Tleil, Akkar District, Lebanon on 15 August 2021. The disaster was reportedly exacerbated by the ongoing Lebanese liquidity crisis; in which the Lebanese pound has plummeted and fuel has been in short supply. The survivors were evacuated by the Lebanese Red Cross. An investigation is underway. The fuel tanker had been confiscated by the Lebanese Armed Forces from black marketeers, the fuel was then distributed/taken by the locals. The son of the man whose land the fuel tanker was located on, was later arrested, accused of deliberately causing the explosion. Agencies (2021-08-15). "At least 20 killed and 79 injured in fuel tank explosion in Lebanon". the Guardian. Retrieved 2021-08-15. "Lebanon fuel explosion kills 22 and injures dozens more". The Independent. 2021-08-15. Archived from the original on 2021-08-15. Retrieved 2021-08-15. "Lebanon: At least 20 dead and dozens injured after fuel tank explodes as ...
https://en.wikipedia.org/wiki/2021_Akkar_explosion
Straubing TigersStraubing Tigers
The Straubing Tigers are a professional men's ice hockey team, based in Straubing, Germany, that competes in the Deutsche Eishockey Liga. Straubing plays its home games at the Eisstadion am Pulverturm, which has a capacity of 5,800 spectators. Promoted to the DEL in 2006, and operating with one of the league's smallest budgets, the team could finish no better than twelfth before the 2011-12 DEL season, when it reached the semi-finals of the playoffs. Their greatest success so far is the qualification for the season 2020-21 of the Champions Hockey League. In 1941, the then 14-year-old Max Pielmaier and his friends Max Pellkofer and Harry Poiger founded the first hockey team in Straubing. The first official game took place on the first of February 1942 in Hof and was lost by a score of 0:1. In the following year there were several games against other Bavarian teams. The game against Landshut on 31 January. 1943 was the last game during the second World War, because the young players also had to ...
https://en.wikipedia.org/wiki/Straubing_Tigers
Leina, Saare CountyLeina, Saare County
Leina is a village in Saaremaa Parish, Saare County in western Estonia. Before the administrative reform in 2017, the village was in Pihtla Parish. "Lisa. Asustusüksuste nimistu" (PDF). haldusreform.fin.ee (in Estonian). Rahandusministeerium. Retrieved 5 December 2017. "Saaremaa külad endiste valdade piires". www.saaremaa.ee (in Estonian). Archived from the original on 3 December 2017. Retrieved 5 December 2017. Coordinates: 58°17′10″N 22°46′26″E / 58.28611°N 22.77389°E / 58.28611; 22.77389 v t e (CS1 Estonian-language sources (et), Articles with short description, Short description is different from Wikidata, Pages using infobox settlement with no map, Pages using infobox settlement with no coordinates, Saaremaa Parish, Coordinates on Wikidata, Villages in Saare County, All stub articles, Saare County geography stubs ...
https://en.wikipedia.org/wiki/Leina,_Saare_County
SestiereSestiere
A sestiere (plural: sestieri) is a subdivision of certain Italian towns and cities. The word is from sesto ('sixth'), so it is thus used only for towns divided into six districts. The best-known example is the sestieri of Venice, but Ascoli Piceno, Genoa, Milan and Rapallo, for example, were also divided into sestieri. The medieval Lordship of Negroponte, on the island of Euboea, was also at times divided into six districts, each with a separate ruler, through the arbitration of Venice, which were known as sestieri. The island of Crete, a Venetian colony (the "Kingdom of Candia") from the Fourth Crusade, was also divided into six parts, named after the sestieri of Venice herself, while the capital Candia retained the status of a comune of Venice. The island of Burano north of Venice is also subdivided into sestieri. A variation of the word is occasionally found: the comune of Leonessa, for example, is divided into sesti or sixths. Other Italian towns with fewer than six official districts are ...
https://en.wikipedia.org/wiki/Sestiere
Island ImageIsland Image
The Island Image is a Chesapeake Bay log canoe, built in 1885 at Elliot's Island, Maryland, by Herman Jones and Isaac Moore. She is 29'-8½" long with a beam of 5-10¼", and has a straight, raking stem and a sharp stern. It is privately owned, and races under No. 17. She one of the last 22 surviving traditional Chesapeake Bay racing log canoes that carry on a tradition of racing on the Eastern Shore of Maryland that has existed since the 1840s. She is located at Chestertown, Kent County, Maryland. She was listed on the National Register of Historic Places in 1985. "National Register Information System". National Register of Historic Places. National Park Service. April 15, 2008. "Maryland Historical Trust". ISLAND IMAGE (log canoe). Maryland Historical Trust. 2008-06-14. "Island Image #17 , CBLCSA". Island Image. Chesapeake Bay Log Sailing Canoe Association. 2010-07-24. Archived from the original on 2011-07-08. Retrieved 2010-07-29. ISLAND IMAGE (log canoe), Kent County, including photo in 1984, ...
https://en.wikipedia.org/wiki/Island_Image
Bord Khun Rural DistrictBord Khun Rural District
... (Persian: دهستان بردخون) is a rural district (dehestan) in the Bord Khun District of Deyr County, Bushehr Province, Iran. At the 2006 census, its population was 1,115, in 234 families. The rural district has 14 villages. "Census of the Islamic Republic of Iran, 1385 (2006)" (Excel). Statistical Center of Iran. Archived from the original on 2011-11-11. Coordinates: 27°58′N 51°32′E / 27.967°N 51.533°E / 27.967; 51.533 v t e (Articles with short description, Short description matches Wikidata, Pages using infobox settlement with no map, Pages using infobox settlement with no coordinates, Articles containing Persian-language text, Coordinates on Wikidata, Rural Districts of Bushehr Province, Deyr County, All stub articles, Deyr County geography stubs ...
https://en.wikipedia.org/wiki/Bord_Khun_Rural_District
CamelpoxCamelpox
... is a disease of camels caused by the camelpox virus (CMPV) of the family Poxviridae, subfamily Chordopoxvirinae, and the genus Orthopoxvirus. It causes skin lesions and a generalized infection. Approximately 25% of young camels that become infected will die from the disease, while infection in older camels is generally more mild. Although rare, the infection may spread to the hands of those that work closely with camels. The camelpox virus that causes camelpox is an orthopoxvirus that is very closely related to the variola virus that causes smallpox. It is a large, brick-shaped, enveloped virus that ranges in size from 265-295 nm. The viral genetic material is contained in a linear double-stranded DNA consisting of 202,182 tightly packed base pairs. The DNA is encased in the viral core. Two lateral bodies are found outside the viral core, and are believed to hold the enzymes required for viral reproduction. The camelpox virus most often affects members of family Camelidae. However, ...
https://en.wikipedia.org/wiki/Camelpox
Argininosuccinic aciduria: MedlinePlus GeneticsArgininosuccinic aciduria: MedlinePlus Genetics
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Explore symptoms, ... Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may ... medlineplus.gov/genetics/condition/argininosuccinic-aciduria/ Argininosuccinic aciduria. ... Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed ...
https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria
Good Laboratory Practices for Biochemical Genetic Testing and Newborn Screening for Inherited Metabolic DisordersGood Laboratory Practices for Biochemical Genetic Testing and Newborn Screening for Inherited Metabolic Disorders
Argininosuccinic aciduria. Citrullinemia, type I. Maple syrup urine disease. Homocystinuria. Classic phenylketonuria ... low excretor variants of glutaric aciduria type 1, intermittent findings of fatty acid oxidation disorders, or normal analyte ...
https://www.cdc.gov/mmwr/preview/mmwrhtml/rr6102a1.htm
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond | Read by QxMDArgininosuccinate lyase deficiency-argininosuccinic aciduria and beyond | Read by QxMD
... and excretion of argininosuccinic acid in urine leading to the condition argininosuccinic aciduria (ASA). ASA is an autosomal ... Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. N R Glick, P ... Optimizing therapy for argininosuccinic aciduria. Sandesh C S Nagamani, Brendan Lee, Ayelet Erez Molecular Genetics and ... Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. Bee Chin Chen, Lock Hock Ngu, Md ...
https://read.qxmd.com/read/21312326/argininosuccinate-lyase-deficiency-argininosuccinic-aciduria-and-beyond
Trichorrhexis Nodosa Differential DiagnosesTrichorrhexis Nodosa Differential Diagnoses
Trichorrhexis nodosa secondary to argininosuccinicaciduria. Pediatr Dermatol. 2007 Jan-Feb. 24(1):25-7. [QxMD MEDLINE Link]. ...
https://emedicine.medscape.com/article/1073664-differential
Welcome to PhenoDisWelcome to PhenoDis
1958), onset of symptoms of argininosuccinic aciduria occurs in the first weeks ... Two forms of argininosuccinic aciduria have ... Argininosuccinic aciduria General Information (adopted from Orphanet):. Synonyms, Signs: ASLD. Argininosuccinase deficiency. ... Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. As ... Argininosuccinic aciduria belongs to the class of urea cycle disorders. It is caused by mutations in the gene ASL encoding the ...
http://mips.helmholtz-muenchen.de/phenodis/disease/show/2495
Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiationNitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation
Argininosuccinic Aciduria / genetics * Argininosuccinic Aciduria / metabolism* * Argininosuccinic Aciduria / pathology * Bone ...
https://pubmed.ncbi.nlm.nih.gov/33373331/
CT NBS PanelCT NBS Panel
Argininosuccinic Aciduria ASA. Benign Hyperphenylalaninemia PHE. Biopterin Defect in Cofactor Biosynthesis. BIOPT (BS) ...
https://portal.ct.gov/Newborn-Screening-Program/Pages/CT-NBS-Panel
arginine Clinical Research Trials | CenterWatcharginine Clinical Research Trials | CenterWatch
I am/have/hadargininosuccinic aciduria. I am/have/hadvasodilatation. I am/have/hadcolitis. ...
https://www.centerwatch.com/clinical-trials/listings/search/?q=arginine&page=6
Newborn Metabolic Screenings in PA, NJ and DE | Childrens Hospital of PhiladelphiaNewborn Metabolic Screenings in PA, NJ and DE | Children's Hospital of Philadelphia
Argininosuccinic aciduria. amino acid. yes. yes. yes. Benign hyperphenylalaninemia (H-PHE). amino acid. no. yes. yes. ... 3-hydroxy-3-methylglutaric aciduria. organic acid. yes. yes. yes. 3-methylcrotonyl-CoA carboxylase deficiency. organic acid. ...
https://www.chop.edu/pages/newborn-metabolic-screenings-pa-nj-and-de
Argininosuccinate Lyase (ASL) Deficiency Differential DiagnosesArgininosuccinate Lyase (ASL) Deficiency Differential Diagnoses
Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. J Pediatr. 1980 Mar. 96(3 Pt 1):429- ... Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. Am J Hum ... Erez A, Nagamani SC, Lee B. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. Am J Med Genet C Semin Med ... A mouse model of argininosuccinic aciduria: biochemical characterization. Mol Genet Metab. 2003 Jan. 78(1):11-6. [QxMD MEDLINE ...
https://emedicine.medscape.com/article/950752-differential
Hyperammonemia Medication: Urea Cycle Disorder Treatment Agents, AntiemeticHyperammonemia Medication: Urea Cycle Disorder Treatment Agents, Antiemetic
Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. J Pediatr. 1980 Mar. 96(3 Pt 1):429- ...
https://www.medscape.com/answers/1174503-161416/which-medications-in-the-drug-class-antiemetic-are-used-in-the-treatment-of-hyperammonemia
Diseases BrowserDiseases Browser
ARGININOSUCCINIC ACIDURIA. 207900. 28. ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY. 208000. 6. ARTERIOVENOUS FISTULAS. ...
https://www.coriell.org/0/Sections/BrowseCatalog/Diseases.aspx?PgId=3
sodium citrate Summary Report | CureHuntersodium citrate Summary Report | CureHunter
Argininosuccinic Aciduria 11/01/1995 - "Sodium citrate supplementation in inborn argininosuccinate lyase deficiency: a study in ...
https://www.curehunter.com/public/keywordSummaryC102006.do
Urea Cycle - Steps, Significance and ImportanceUrea Cycle - Steps, Significance and Importance
Argininosuccinic aciduria. Arginosuccinase. Hyperargininemia. Arginase. Conclusion. Urea cycle is a series of metabolic ...
https://www.vedantu.com/biology/urea-cycle
Argininosuccinate Lyase | Harvard Catalyst Profiles | Harvard CatalystArgininosuccinate Lyase | Harvard Catalyst Profiles | Harvard Catalyst
Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia. Prenat Diagn. 1996 May ... Its absence leads to the metabolic disease ARGININOSUCCINIC ACIDURIA in man. EC 4.3.2.1. ...
https://connects.catalyst.harvard.edu/Profiles/display/Concept/Argininosuccinate%20Lyase
Orphanet: Ornithine transcarbamylase deficiency
Differential diagnoses include carbamoyl-phosphate synthetase deficiency, argininosuccinic aciduria, hyperammonemia due to N- ...
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=664
Screened Conditions Report | NewSTEPsScreened Conditions Report | NewSTEPs
Argininosuccinic aciduria - ASA. 52. 1. Citrullinemia, type I - CIT. 53. Classic phenylketonuria - PKU. 53. ...
https://www.newsteps.org/data-resources/reports/screened-conditions-report
Trichorrhexis Invaginata and Trichorrhexis Nodosa | DrGreene.comTrichorrhexis Invaginata and Trichorrhexis Nodosa | DrGreene.com
... argininosuccinic aciduria - dont worry about the name). This can be diagnosed with a urine test, but would already be evident ...
https://www.drgreene.com/qa-articles/trichorrhexis-invaginata-trichorrhexis-nodosa
ARUP Journal Article Publications Archive-2015 | ARUP LaboratoriesARUP Journal Article Publications Archive-2015 | ARUP Laboratories
... implications for the diagnosis of argininosuccinic aciduria. Clinica Chimica Acta 2015;442C:73-74. ...
https://www.aruplab.com/research/publications/2015
Amino Acid Archives - Florida Newborn Screening
Argininosuccinic Aciduria (ASA) Argininosuccinic aciduria (ASA) is a condition that causes dangerous amounts of ammonia to ...
https://floridanewbornscreening.com/condition_type/amino-acid-disorders/
Clinical Guidelines (Nursing) : Newborn bloodspot screeningClinical Guidelines (Nursing) : Newborn bloodspot screening
Include; 3-hydroxy-3-methylglutaryl CoA lyase, 3-methylglutaryl CoA hydratase, Argininosuccinic aciduria, Citrullinaemia type 1 ... Glutaric aciduria type 1, Holocarboxylase synthase, Isovaleryl CoA dehydrogenase, Medium-chain acyl CoA dehydrogenase, ...
https://www.rch.org.au/rchcpg/hospital_clinical_guideline_index/newborn-bloodspot-screening/
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders - Fingerprint - Oregon Health & Science...Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders - Fingerprint - Oregon Health & Science...
Argininosuccinic Aciduria 14% * Citrullinemia 13% * Argininosuccinate Synthase 12% * Sodium Benzoate 12% * Ornithine ...
https://ohsu.pure.elsevier.com/en/publications/impact-of-diagnosis-and-therapy-on-cognitive-function-in-urea-cyc/fingerprints/
DeCSDeCS
Argininosuccinic Acid Lyase Deficiency Argininosuccinic Acidemia Argininosuccinic Acidurias Argininosuccinicaciduria ... Argininosuccinic Acid Lyase Deficiency. Argininosuccinic Acidemia. Argininosuccinic Acidurias. Argininosuccinicaciduria. ... Aciduria, Argininosuccinic Acidurias, Argininosuccinic Arginino Succinase Deficiencies Arginino Succinase Deficiency ... Aciduria, Argininosuccinic. Acidurias, Argininosuccinic. Arginino Succinase Deficiencies. Arginino Succinase Deficiency. ...
https://decs.bvsalud.org/en/ths/resource/?id=53508&filter=ths_exact_term&q=ACID%C3%9ARIA+ARGININOSSUCC%C3%8DNICA
Code System Concept
Argininosuccinic aciduria Active Synonym false false 68420019 ASAL deficiency Active Synonym false false ...
https://phinvads.cdc.gov/vads/ViewCodeSystemConcept.action?oid=2.16.840.1.113883.6.96&code=41013004
CDC/NIH Web Information Database|Home|PHGKBCDC/NIH Web Information Database|Home|PHGKB
Argininosuccinic aciduria From NCATS Genetic and Rare Diseases Information Center File Formats Help:. How do I view different ...
https://phgkb.cdc.gov/PHGKB/cDCInfoFinder.action?Mysubmit=init&query=Argininosuccinic+Aciduria&dbTypeChoice=Rare&dbChoice=NIH
Paediatrics: Urea cycle disordersPaediatrics: Urea cycle disorders
Argininosuccinase acid lyase deficiency (argininosuccinic aciduria; AL/ ASA). • Arginase deficiency (arginaemia; AL/ASA). ...
https://www.brainkart.com/article/Paediatrics--Urea-cycle-disorders_29110/
Genetics of Hyperammonemia Workup: Laboratory Studies, Imaging StudiesGenetics of Hyperammonemia Workup: Laboratory Studies, Imaging Studies
These are helpful in confirming argininosuccinic aciduria; lysinuric protein intolerance; or hyperornithinemia, hyperammonemia ... The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. ... Compound 3 is aspartic acid, which is combined with citrulline to form argininosuccinic acid (4); the reaction is mediated by ... such as increased citrulline or argininosuccinic acid levels. ...
https://emedicine.staging.medscape.com/article/944996-workup
Gene Mutation BrowserGene Mutation Browser
ARGININOSUCCINIC ACIDURIA. 2. ASL. 608310. 207900. 7cen-q11.2. ARG12GLN. ARGININOSUCCINIC ACIDURIA. 2. ... ARGININOSUCCINIC ACIDURIA. 1. ASL. 608310. 207900. 7cen-q11.2. MET256THR. ARGININOSUCCINIC ACIDURIA. 1. ...
https://catalog.coriell.org/0/Sections/BrowseCatalog/GeneDetail.aspx?PgId=414&gene=ASL&coll=
Empowering Patient Advocates - Leukodystrophy Newborn Screening - Action NetworkEmpowering Patient Advocates - Leukodystrophy Newborn Screening - Action Network
3-Hydroxy-3-Methylglutaric Aciduria. 3-Methylcrotonyl-CoA Carboxylase Deficiency. Argininosuccinic Aciduria. Beta-Ketothiolase ...
https://ldnbs.org/our-projects/empowering-patient-advocates/
DeficiencyCitrullinemiaUrea cycle disCitrullinaemiaNeonatalInherited disorderPrenatalGeneticHyperammonemiaAcidBiochemicalMetabolicComplicationsAmmoniaLiverMutationsLyasePatients with argininosuccinicAutosomalUrea Cycle DisDicarboxylicAcidemiaGeneUrineOccurs70,000Body
Deficiency6
  • Deficiency of ASL results in an accumulation of argininosuccinic acid in tissues, and excretion of argininosuccinic acid in urine leading to the condition argininosuccinic aciduria (ASA). (qxmd.com)
  • In addition to the accumulation of argininosuccinic acid, ASL deficiency results in decreased synthesis of arginine, a feature common to all UCDs except argininemia. (qxmd.com)
  • While patients with ASA share the acute clinical phenotype of hyperammonemia, encephalopathy, and respiratory alkalosis common to other UCD, they also present with unique chronic complications most probably caused by a combination of tissue specific deficiency of arginine and/or elevation of argininosuccinic acid. (qxmd.com)
  • Erez A, Nagamani SC, Lee B. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. (medscape.com)
  • Differential diagnoses include carbamoyl-phosphate synthetase deficiency, argininosuccinic aciduria, hyperammonemia due to N-acetylglutamate synthase deficiency, citrullinemia type 1 and argininemia. (orpha.net)
  • Further testing is needed to differentiate among citrullinemias I and II, argininosuccinic aciduria, and pyruvate carboxylase deficiency by molecular genetic analysis. (medicalhomeportal.org)
Citrullinemia1
  • Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. (medscape.com)
Urea cycle dis1
Citrullinaemia1
  • Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia. (harvard.edu)
Neonatal2
  • Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. (qxmd.com)
  • Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. (medscape.com)
Inherited disorder1
  • Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. (medlineplus.gov)
Prenatal1
  • Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. (medlineplus.gov)
Genetic1
  • Certain primary genetic causes can be suspected based on specific increases in amino acid levels, such as increased citrulline or argininosuccinic acid levels. (medscape.com)
Hyperammonemia1
  • Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA . (bvsalud.org)
Acid2
  • Argininosuccinate lyase (ASL) is a cytosolic enzyme which catalyzes the fourth reaction in the cycle and the first degradative step, that is, the breakdown of argininosuccinic acid to arginine and fumarate. (qxmd.com)
  • It is caused by mutations in the gene ASL encoding the enzyme argininosuccinic acid lyase, one of the six enzymes and two transporters involved in the detoxification of ammonium to urea (PMID:22241104). (helmholtz-muenchen.de)
Biochemical3
  • A mouse model of argininosuccinic aciduria: biochemical characterization. (qxmd.com)
  • Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. (qxmd.com)
  • Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. (qxmd.com)
Metabolic2
  • Its absence leads to the metabolic disease ARGININOSUCCINIC ACIDURIA in man. (harvard.edu)
  • When it does run in families, it is occasionally associated with mental retardation from an underlying metabolic problem (argininosuccinic aciduria - don't worry about the name). (drgreene.com)
Complications2
  • Complications from argininosuccinic aciduria may include developmental delay and intellectual disability. (medlineplus.gov)
  • Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. (qxmd.com)
Ammonia2
  • This buildup of ammonia damages the brain and other tissues and causes neurological problems and other signs and symptoms of argininosuccinic aciduria. (medlineplus.gov)
  • Argininosuccinic aciduria (ASA) is a condition that causes dangerous amounts of ammonia to build up in the body. (floridanewbornscreening.com)
Liver1
  • Zimmermann A, Bachmann C, Baumgartner R. Severe liver fibrosis in argininosuccinic aciduria. (medscape.com)
Mutations1
  • Mutations in the ASL gene cause argininosuccinic aciduria. (medlineplus.gov)
Lyase2
  • In people with argininosuccinic aciduria, argininosuccinate lyase is dysfunctional or missing. (medlineplus.gov)
  • Argininosuccinic acid is a precursor to fumarate in the citric acid cycle via argininosuccinate lyase. (t3db.ca)
Patients with argininosuccinic1
  • This occurs in patients with argininosuccinic aciduria, despite the fact that formation of this substance ensures incorporation of the 2 waste nitrogen molecules normally found in urea. (medscape.com)
Autosomal2
  • C2950 Chromosome Abnormality C99147 Neonatal Research Network Terminology C98683 3-Methylglutaconic Aciduria Type 1 3-Methylglutaconic Aciduria Type 1 3-methylglutaconic aciduria inherited in an autosomal recessive pattern and caused by mutations in the AUH gene. (nih.gov)
  • Inherited as an autosomal recessive trait, argininosuccinic aciduria affects both sexes equally. (medscape.com)
Urea Cycle Dis1
  • In 2006, he joined the lab of Dr. Brendan Lee, Baylor College of Medicine, where he studied the natural history of urea cycle disorders including argininosuccinic aciduria. (nih.gov)
Dicarboxylic1
Acidemia1
  • Su ausencia en el hombre conduce a la enfermedad metabólica conocida como acidemia argininosuccínica. (bvsalud.org)
Gene1
  • Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer. (ucl.ac.uk)
Urine1
  • This leads to an accumulation of ASA in cells and an excessive excretion of ASA in urine (arginosuccinic aciduria). (t3db.ca)
Occurs1
  • Argininosuccinic aciduria occurs in approximately 1 in 70,000 to 218,000 newborns. (medlineplus.gov)
70,0001
  • The prevalence at birth of argininosuccinic aciduria (ASA) ranges between 1/70,000-218,000 worldwide. (orpha.net)
Body1
  • An infant with Argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. (nih.gov)
ASL gene: MedlinePlus Genetics
ASL gene: MedlinePlus Genetics (medlineplus.gov)
Infants with Congenital Disorders Identified Through Newborn Screening - United States, 2015-2017 | MMWR
Infants with Congenital Disorders Identified Through Newborn Screening - United States, 2015-2017 | MMWR (cdc.gov)
Argininosuccinic aciduria: MedlinePlus Genetics
Argininosuccinic aciduria: MedlinePlus Genetics (medlineplus.gov)
Hereditary urea cycle abnormality: MedlinePlus Medical Encyclopedia
Hereditary urea cycle abnormality: MedlinePlus Medical Encyclopedia (medlineplus.gov)
Newborn Screening: MedlinePlus
Newborn Screening: MedlinePlus (medlineplus.gov)
Amino Acid Metabolism Disorders: MedlinePlus
Amino Acid Metabolism Disorders: MedlinePlus (medlineplus.gov)
Suggested guidelines for the diagnosis and management of urea cycle disorders | Orphanet Journal of Rare Diseases | Full Text
Suggested guidelines for the diagnosis and management of urea cycle disorders | Orphanet Journal of Rare Diseases | Full Text (ojrd.biomedcentral.com)
Genetic Brain Disorders | MedlinePlus
Genetic Brain Disorders | MedlinePlus (medlineplus.gov)
CT NBS Panel
CT NBS Panel (portal.ct.gov)
Ammonia: Reference Range, Interpretation, Collection and Panels
Ammonia: Reference Range, Interpretation, Collection and Panels (emedicine.medscape.com)
Begriffe mit A | Medizin-Lexikon | gesundheit.de
Begriffe mit A | Medizin-Lexikon | gesundheit.de (gesundheit.de)
Urea Cycle - Steps, Significance and Importance
Urea Cycle - Steps, Significance and Importance (vedantu.com)
Argininosuccinate Lyase | Harvard Catalyst Profiles | Harvard Catalyst
Argininosuccinate Lyase | Harvard Catalyst Profiles | Harvard Catalyst (connects.catalyst.harvard.edu)
Hyperammonemia Workup: Laboratory Studies, Imaging Studies, Histologic Findings
Hyperammonemia Workup: Laboratory Studies, Imaging Studies, Histologic Findings (emedicine.medscape.com)
Clinical Guidelines (Nursing) : Newborn bloodspot screening
Clinical Guidelines (Nursing) : Newborn bloodspot screening (rch.org.au)
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond | Read by QxMD
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond | Read by QxMD (read.qxmd.com)
4-SEMEN ingles - CEIFER BioBanco
4-SEMEN ingles - CEIFER BioBanco (ceifer.com)
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot...
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot... (bmcmedgenet.biomedcentral.com)
Determination of immunogenic proteins in biopharmaceuticals by UHPLC-MS amino acid analysis | BMC Chemistry | Full Text
Determination of immunogenic proteins in biopharmaceuticals by UHPLC-MS amino acid analysis | BMC Chemistry | Full Text (bmcchem.biomedcentral.com)
WHO EMRO | Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011 |...
WHO EMRO | Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011 |... (emro.who.int)
MeSH Browser
MeSH Browser (meshb-prev.nlm.nih.gov)
CDC Grand Rounds: Newborn Screening and Improved Outcomes
CDC Grand Rounds: Newborn Screening and Improved Outcomes (cdc.gov)
Genetic Brain Disorders | MedlinePlus
Genetic Brain Disorders | MedlinePlus (medlineplus.gov)
(emedicine.medscape.com)
(emedicine.medscape.com)
Trichorrhexis Nodosa Differential Diagnoses
Trichorrhexis Nodosa Differential Diagnoses (emedicine.medscape.com)
Dermatologic Manifestations of Menkes Kinky Hair Disease Differential Diagnoses
Dermatologic Manifestations of Menkes Kinky Hair Disease Differential Diagnoses (emedicine.medscape.com)