AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesTechnology, Industry, AgricultureInformation ScienceHealth CareGeographicals
Argininosuccinic AcidArgininosuccinic AciduriaArgininosuccinate LyaseAmino Acid Metabolism, Inborn ErrorsArginineArgininosuccinate SynthaseGlutaratesMedical History TakingSulfite OxidaseMetabolism, Inborn ErrorsCerebrospinal FluidUric AcidSulfite Reductase (Ferredoxin)Oxidoreductases Acting on Sulfur Group DonorsProtein Disulfide Reductase (Glutathione)Rare DiseasesOrphan Drug ProductionDrug RepositioningWaiting ListsTerminology as TopicLymphangioleiomyomatosisLithiasisHairContusionsDiagnostic ErrorsHair FollicleAlopeciaFaceCellulitisAustraliaRural Health ServicesProgram EvaluationNeonatal ScreeningLipid Metabolism, Inborn ErrorsAdenine NucleotidesPhosphatesAdenosineDatabases, PharmaceuticalPharmacological ProcessesDatabases, ChemicalAdenosine Monophosphate
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
Medical History Taking
Acquiring information from a patient on past medical conditions and treatments.
Sulfite Oxidase
A MOLYBDENUM requiring enzyme that catalyzes the terminal reaction in the oxidative degradation of SULFUR AMINO ACIDS with the formation of a sulfate. A deficiency of sulfite oxidase results in sulfocysteinuria.
Metabolism, Inborn Errors
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Cerebrospinal Fluid
A watery fluid that is continuously produced in the CHOROID PLEXUS and circulates around the surface of the BRAIN; SPINAL CORD; and in the CEREBRAL VENTRICLES.
Uric Acid
An oxidation product, via XANTHINE OXIDASE, of oxypurines such as XANTHINE and HYPOXANTHINE. It is the final oxidation product of purine catabolism in humans and primates, whereas in most other mammals URATE OXIDASE further oxidizes it to ALLANTOIN.
Sulfite Reductase (Ferredoxin)
A FERREDOXIN-dependent oxidoreductase that is primarily found in PLANTS where it plays an important role in the assimilation of SULFUR atoms for the production of CYSTEINE and METHIONINE.
Oxidoreductases Acting on Sulfur Group Donors
Oxidoreductases with specificity for oxidation or reduction of SULFUR COMPOUNDS.
Protein Disulfide Reductase (Glutathione)
An enzyme that catalyzes the reduction of a protein-disulfide in the presence of glutathione, forming a protein-dithiol. Insulin is one of its substrates. EC 1.8.4.2.
Rare Diseases
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
Orphan Drug Production
Production of drugs or biologicals which are unlikely to be manufactured by private industry unless special incentives are provided by others.
Drug Repositioning
The deliberate and methodical practice of finding new applications for existing drugs.
Waiting Lists
Prospective patient listings for appointments or treatments.
Terminology as Topic
The terms, expressions, designations, or symbols used in a particular science, discipline, or specialized subject area.
Lymphangioleiomyomatosis
A disease characterized by the progressive invasion of SMOOTH MUSCLE CELLS into the LYMPHATIC VESSELS, and the BLOOD VESSELS. The majority of the cases occur in the LUNGS of women of child-bearing age, eventually blocking the flow of air, blood, and lymph. The common symptom is shortness of breath (DYSPNEA).
Lithiasis
A condition characterized by the formation of CALCULI and concretions in the hollow organs or ducts of the body. They occur most often in the gallbladder, kidney, and lower urinary tract.
Hair
A filament-like structure consisting of a shaft which projects to the surface of the SKIN from a root which is softer than the shaft and lodges in the cavity of a HAIR FOLLICLE. It is found on most surfaces of the body.
Contusions
Injuries resulting in hemorrhage, usually manifested in the skin.
Diagnostic Errors
Incorrect diagnoses after clinical examination or technical diagnostic procedures.
Hair Follicle
A tube-like invagination of the EPIDERMIS from which the hair shaft develops and into which SEBACEOUS GLANDS open. The hair follicle is lined by a cellular inner and outer root sheath of epidermal origin and is invested with a fibrous sheath derived from the dermis. (Stedman, 26th ed) Follicles of very long hairs extend into the subcutaneous layer of tissue under the SKIN.
Alopecia
Absence of hair from areas where it is normally present.
Face
The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.
Cellulitis
An acute, diffuse, and suppurative inflammation of loose connective tissue, particularly the deep subcutaneous tissues, and sometimes muscle, which is most commonly seen as a result of infection of a wound, ulcer, or other skin lesions.
Australia
The smallest continent and an independent country, comprising six states and two territories. Its capital is Canberra.
Rural Health Services
Health services, public or private, in rural areas. The services include the promotion of health and the delivery of health care.
Program Evaluation
Studies designed to assess the efficacy of programs. They may include the evaluation of cost-effectiveness, the extent to which objectives are met, or impact.
Neonatal Screening
The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.
Lipid Metabolism, Inborn Errors
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
Adenine Nucleotides
Phosphates
Inorganic salts of phosphoric acid.
Adenosine
A nucleoside that is composed of ADENINE and D-RIBOSE. Adenosine or adenosine derivatives play many important biological roles in addition to being components of DNA and RNA. Adenosine itself is a neurotransmitter.
Databases, Pharmaceutical
Databases devoted to knowledge about PHARMACEUTICAL PRODUCTS.
Pharmacological Processes
The metabolism of drugs and their mechanisms of action.
Databases, Chemical
Databases devoted to knowledge about specific chemicals.
Adenosine Monophosphate
Adenine nucleotide containing one phosphate group esterified to the sugar moiety in the 2'-, 3'-, or 5'-position.

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)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
ArgininosuccinaseArgininosuccinase
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
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&sort_by=1&order=ASC&rpp=20&etal=-1&authority=rp00594&starts_with=D
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&sort_by=1&order=ASC&rpp=20&etal=-1&authority=rp06931&starts_with=D
Seminars & Events | UCD ConwaySeminars & Events | UCD Conway
Refreshments available outside the lecture theatre from 11.40am. Upcoming CLASS. March. 27 Professor Bruce Cronstein, New York ...
http://www.ucd.ie/conway/education/seminarsevents/eventtitle,398881,en.html
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
http://health.mo.gov/living/families/genetics/newbornscreening/publications.php
Argininosuccinate lyase interacts with cyclin A2 in cytoplasm and modulates growth of liver tumor cells<...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
UCD University GovernanceUCD University Governance
Chairman. Eugene McCague BCL DipEL. The President. Andrew J. Deeks BE (UWA) MEngSc (UWA) PhD (UWA) FIEAust. Senior Academic Officer. Mark Rogers BA (Dubl) PhD (Glasgow), Deputy President, Vice-President for Academic Affairs and Registrar. Elected by the Professorial Staff. Alan Baird BSc (Glasgow) PhD (Lond), UCD School of Veterinary Medicine. Joe Carthy BSc PhD, Principal, UCD College of Science. Orla Feely BE MS (Calif) PhD (Calif), Vice-President for Research, Innovation and Impact. Pat Guiry BSc PhD MRIA, Director, UCD Centre for Synthesis and Chemical Biology. Imelda Maher BCL LLM (Temple) BL (Kings Inns) MRIA, UCD School of Law. Dermot Moran BA MA (Yale) MPhil (Yale) PhD (Yale) DLitt (NUI) MRIA, UCD School of Philosophy. Elected by the Non-Professorial Academic Staff. Joseph Brady MA PhD, UCD School of Geography, Planning and Environmental Policy. Marie Clarke MA PhD HDip in Ed, UCD School of Education. John Dunnion MSc, UCD School of Computer Science and Informatics. Russell Higgs BA ...
http://www.ucd.ie/governance/governanceandmanagementcommittees/governingauthority/
UCD Digital LibraryUCD Digital Library
UCD Library UCD James Joyce Library, University College Dublin, Belfield, Dublin 4, Ireland. Contact Us Terms of Use • UCD Home • UCD Library. ...
https://digital.ucd.ie/?q=%2522Medical+personnel--Ireland%2522&start=1&sort=sort_title%2520asc
Our Protocol Method | Lifestyle Healing Institute | UCDOur Protocol Method | Lifestyle Healing Institute | UCD
We use a special protocol and method to help heal patients. It is called Underlying Causality Diagnostics and it can help transform your life.
https://lifestylehealinginstitute.com/method/
وبسایت رسمی مدرسه ایران فرداوبسایت رسمی مدرسه ایران فردا
In on you are told that Aiden cries and fights during the dressing change-over but in another manner seems to be playing and not experiencing much pain. Annals of the Chic York Academy of Sciences, 1070, 276В-281. Laser therapy is performed nether anaesthesia in an outpatient preoperative environment cheap 75mg plavix fast delivery arrhythmia guidelines 2013. The reduced reciprocated word and strong attenuation of reticent sources draw that during the PTZ-induced seizures, since there was a dear CCC between all electrodes, there is highly synchronized vigour between dominant areas of the brain. In adding to screening for the purpose hearing loss, the Tread of Dimes currently recommends universal newborn metabolic screening tests in return 29 disorders since which useful treatment is ready (March of Dimes, 2010): В· Amino acid metabolism disorders: phenylketonuria, maple syrup urine cancer, homocystinuria, citrullinemia, argininosuccinic acidemia, tyrosinemia group I В· Organic acid ...
http://iranfardaamol.com/forums/reply/6944/
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/
Natural cure for Adenylosuccinate lyase deficiency and alternative treatmentsNatural 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.
http://www.naturalcurefor.com/treatments/adenylosuccinate-lyase-deficiency
101 Sp10 MT2 NoKey (2) - Print Name Test From A UCD ID 1 NPB101 Sp10 MT2 Scantron 1 Clearly Print your Name 2 Subject NPB101...101 Sp10 MT2 NoKey (2) - Print Name Test From A UCD ID 1 NPB101 Sp10 MT2 Scantron 1 Clearly Print your Name 2 Subject NPB101...
View Notes - 101_Sp10_MT2_NoKey (2) from BIS 101/102 at UC Davis. Print Name: ________________________________ Test From: A UCD ID#: _____________________ 1 NPB101_Sp10 - MT2 Scantron: 1. Clearly
https://www.coursehero.com/file/6745480/101-Sp10-MT2-NoKey-2/
Interest In How Eye Tracking Can Help You - Usability, Human Factors, Accessibility, IA, Conversions, UCD - Cre8asiteforumsInterest 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 GroupMeet 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
B3ECP3 | SWISS-MODEL RepositoryB3ECP3 | 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
Urea Cycle Disorders - Market Insights, Epidemiology and Market Forecast - 2025 : ReportsnReportsUrea 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 SyndromeA 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
UCD Digital LibraryUCD Digital Library
UCD News was an internal, informal publication published initially by the Information Officer and later by the Office of Public Affairs for the staff and students of University College Dublin. Its aim was to be an informal news magazine rather than an official publication and a typical issue ...
https://digital.ucd.ie/?q=%2522Medical+personnel--Ireland%2522&start=1&rows=10
Long-term complications of ovarian cysts - All information about cystsLong-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/
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 2015Southwestern 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
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
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
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
pcampeaupcampeau
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/
UniProt: B9JTJ2UniProt: B9JTJ2
ID ARLY_AGRVS Reviewed; 467 AA. AC B9JTJ2; DT 28-JUL-2009, integrated into UniProtKB/Swiss-Prot. DT 24-MAR-2009, sequence version 1. DT 25-OCT-2017, entry version 54. DE RecName: Full=Argininosuccinate lyase {ECO:0000255,HAMAP-Rule:MF_00006}; DE Short=ASAL {ECO:0000255,HAMAP-Rule:MF_00006}; DE EC=4.3.2.1 {ECO:0000255,HAMAP-Rule:MF_00006}; DE AltName: Full=Arginosuccinase {ECO:0000255,HAMAP-Rule:MF_00006}; GN Name=argH {ECO:0000255,HAMAP-Rule:MF_00006}; GN OrderedLocusNames=Avi_4017; OS Agrobacterium vitis (strain S4 / ATCC BAA-846) (Rhizobium vitis OS (strain S4)). OC Bacteria; Proteobacteria; Alphaproteobacteria; Rhizobiales; OC Rhizobiaceae; Rhizobium/Agrobacterium group; Agrobacterium. OX NCBI_TaxID=311402; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RC STRAIN=S4 / ATCC BAA-846; RX PubMed=19251847; DOI=10.1128/JB.01779-08; RA Slater S.C., Goldman B.S., Goodner B., Setubal J.C., Farrand S.K., RA Nester E.W., Burr T.J., Banta L., Dickerman A.W., Paulsen I., RA Otten L., Suen G., ...
http://www.genome.jp/dbget-bin/www_bget?uniprot:B9JTJ2
UniProt/SWISS-PROT: ARLY METSTUniProt/SWISS-PROT: ARLY METST
ID ARLY_METST Reviewed; 465 AA. AC Q2NGN7; DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot. DT 07-FEB-2006, sequence version 1. DT 25-OCT-2017, entry version 79. DE RecName: Full=Argininosuccinate lyase {ECO:0000255,HAMAP-Rule:MF_00006}; DE Short=ASAL {ECO:0000255,HAMAP-Rule:MF_00006}; DE EC=4.3.2.1 {ECO:0000255,HAMAP-Rule:MF_00006}; DE AltName: Full=Arginosuccinase {ECO:0000255,HAMAP-Rule:MF_00006}; GN Name=argH {ECO:0000255,HAMAP-Rule:MF_00006}; GN OrderedLocusNames=Msp_0618; OS Methanosphaera stadtmanae (strain ATCC 43021 / DSM 3091 / JCM 11832 / OS MCB-3). OC Archaea; Euryarchaeota; Methanobacteria; Methanobacteriales; OC Methanobacteriaceae; Methanosphaera. OX NCBI_TaxID=339860; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RC STRAIN=ATCC 43021 / DSM 3091 / JCM 11832 / MCB-3; RX PubMed=16385054; DOI=10.1128/JB.188.2.642-658.2006; RA Fricke W.F., Seedorf H., Henne A., Kruer M., Liesegang H., RA Hedderich R., Gottschalk G., Thauer R.K.; RT The genome sequence of ...
http://www.genome.jp/dbget-bin/www_bget?sp:ARLY_METST
Approved Drug, 4-PBA, Eased ER Stress and Artery Pressure in PAH Rat Model, Study Reports | Pulmonary Hypertension NewsApproved Drug, 4-PBA, Eased ER Stress and Artery Pressure in PAH Rat Model, Study Reports | Pulmonary Hypertension News
Read about the report that PAH in rats can be prevented by the drug 4-PBA, a ER stress targeting drug already approved to treat urea cycle disorders.
https://pulmonaryhypertensionnews.com/2016/06/27/2016FDA-approved-4-PBA-protects-against-pulmonary-arterial-hypertension-in-rats/
3-@methylglutaconic Aciduria, Type I: Disease Bioinformatics: Novus Biologicals[email protected] Aciduria, Type I: Disease Bioinformatics: Novus Biologicals
Learn more about [email protected] Aciduria, Type I from related diseases, pathways, genes and PTMs with the Novus Bioinformatics Tool.
https://www.novusbio.com/diseases/3-%40methylglutaconic-aciduria-type-i
UCD Conway Institute marks 10 years of biomedical research: spawns more than 1,000 scientists - Innovation | siliconrepublic...UCD Conway Institute marks 10 years of biomedical research: spawns more than 1,000 scientists - Innovation | siliconrepublic...
Since it opened in 2003, the UCD Conway Institute has been working to nurture scientists of the future to work in the area of biomolecular and biomedical research. Today it is marking its 10th anniversary.
https://www.siliconrepublic.com/innovation/ucd-conway-institute-marks-10-years-of-biomedical-research-spawns-more-than-1000-scientists
UCD Medical Group - Davis - LocalWikiUCD Medical Group - Davis - LocalWiki
2014-05-30 17:49:06 UC made Sutter Health so expensive this year that many of us changed to UC Davis, including my family. This now seems to have been a dreadful mistake. The problems are mostly administrative rather than medical, but the issues are so numerous that they make getting timely medical care almost impossible. I know from professional staff who work for UC Med that doctors are under pressure to increase their case loads, and this shows in the long waits for appointments. And the scheduling of appointments is chaotic with lots of waiting: waiting for someone to answer the phone (20 minutes on hold is typical), waiting days for someone to return your message to the on-line scheduling system, waiting for them to correct the appointment they made at an arbitrary time when youve told them you cant come. Everyone is always very pleasant, but they just dont seem to know what they are doing. Just last week I showed up for an appointment at 4 pm, only to be told that the doctor had jury ...
https://daviswiki.org/UCD_Medical_Group?action=info
UCD Medical Group - Davis - LocalWikiUCD Medical Group - Davis - LocalWiki
2014-05-30 17:49:06 UC made Sutter Health so expensive this year that many of us changed to UC Davis, including my family. This now seems to have been a dreadful mistake. The problems are mostly administrative rather than medical, but the issues are so numerous that they make getting timely medical care almost impossible. I know from professional staff who work for UC Med that doctors are under pressure to increase their case loads, and this shows in the long waits for appointments. And the scheduling of appointments is chaotic with lots of waiting: waiting for someone to answer the phone (20 minutes on hold is typical), waiting days for someone to return your message to the on-line scheduling system, waiting for them to correct the appointment they made at an arbitrary time when youve told them you cant come. Everyone is always very pleasant, but they just dont seem to know what they are doing. Just last week I showed up for an appointment at 4 pm, only to be told that the doctor had jury ...
https://daviswiki.org/UCD_Medical_Group
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
Succinic semialdehyde dehydrogenase deficiencySuccinic semialdehyde dehydrogenase deficiency
Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ... also known as 4-hydroxybutyric aciduria or gamma-hydroxybutyric aciduria, is a rare autosomal recessive disorder[1] of the ... 4-hydroxybutyric aciduria)" (pdf). American Journal of Human Genetics. 63 (2): 399-408. doi:10.1086/301964. PMC 1377305 . PMID ... γ-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and ...
https://en.wikipedia.org/wiki/Gamma-hydroxybutyric_aciduria
Tyrosinemia type IITyrosinemia type II
Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ...
https://en.wikipedia.org/wiki/Tyrosinemia_II
HistidinemiaHistidinemia
Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ...
https://en.wikipedia.org/wiki/Histidinemia
Ocular albinismOcular albinism
Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ...
https://en.wikipedia.org/wiki/Ocular_albinism
3-Methylcrotonyl-CoA carboxylase deficiency3-Methylcrotonyl-CoA carboxylase deficiency
Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ...
https://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency
Kromosomang 7 (tao), ang malayang ensiklopedyaKromosomang 7 (tao), ang malayang ensiklopedya
argininosuccinic aciduria. *cerebral cavernous malformation. *Charcot-Marie-Tooth disease. *Charcot-Marie-Tooth disease, type 2 ...
https://tl.m.wikipedia.org/wiki/Kromosomang_7_
AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesTechnology, Industry, AgricultureInformation ScienceHealth CareGeographicals
Argininosuccinic AcidArgininosuccinic AciduriaArgininosuccinate LyaseAmino Acid Metabolism, Inborn ErrorsArginineArgininosuccinate SynthaseGlutaratesMedical History TakingSulfite OxidaseMetabolism, Inborn ErrorsCerebrospinal FluidUric AcidSulfite Reductase (Ferredoxin)Oxidoreductases Acting on Sulfur Group DonorsProtein Disulfide Reductase (Glutathione)Rare DiseasesOrphan Drug ProductionDrug RepositioningWaiting ListsTerminology as TopicLymphangioleiomyomatosisLithiasisHairContusionsDiagnostic ErrorsHair FollicleAlopeciaFaceCellulitisAustraliaRural Health ServicesProgram EvaluationNeonatal ScreeningLipid Metabolism, Inborn ErrorsAdenine NucleotidesPhosphatesAdenosineDatabases, PharmaceuticalPharmacological ProcessesDatabases, ChemicalAdenosine Monophosphate
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
Argininosuccinic Aciduria - ONAArgininosuccinic Aciduria - ONA
Who is at Risk for Developing Argininosuccinic Aciduria?. Argininosuccinic aciduria is a rare disorder and may be one of many ... What is the Cause of Argininosuccinic Aciduria?. Etiology. Pathophysiology. Argininosuccinic aciduria is caused by mutations in ... Argininosuccinic aciduria is a disorder of the urea acid cycle. Although patients may present at any age, the onset is more ... Argininosuccinic Aciduria [argininosuccinate lyase deficiency. Are You Confident of the Diagnosis?. What you should be alert ...
https://www.oncologynurseadvisor.com/dermatology/argininosuccinic-aciduria/article/593327/
Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder - Full Text View - ClinicalTrials...Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder - Full Text View - ClinicalTrials...
Argininosuccinic Aciduria Amino Acid Metabolism, Inborn Errors Urea Cycle Disorders Drug: Sodium Phenylbutyrate Drug: Arginine ... Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder. The safety and scientific ... Argininosuccinic aciduria (ASA) is a type of urea cycle disorder that is characterized specifically by high levels of ... Argininosuccinic Aciduria. Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System ...
https://clinicaltrials.gov/ct2/show/NCT00345605?cond=%22N-acetylglutamate+synthase+deficiency%22+OR+%22Amino+Acid+Metabolism%2C+Inborn+Errors%22&rank=1
Argininosuccinic aciduria | definition of argininosuccinic aciduria by Medical dictionaryArgininosuccinic aciduria | definition of argininosuccinic aciduria by Medical dictionary
What is argininosuccinic aciduria? Meaning of argininosuccinic aciduria medical term. What does argininosuccinic aciduria mean? ... Looking for online definition of argininosuccinic aciduria in the Medical Dictionary? argininosuccinic aciduria explanation ... argininosuccinic aciduria. Also found in: Wikipedia. argininosuccinic aciduria. [MIM*207900] an autosomal-recessive disorder ... Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.. Argininosuccinic aciduria in a ...
https://medical-dictionary.thefreedictionary.com/Argininosuccinic+aciduria
Argininosuccinic aciduria Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.comArgininosuccinic aciduria Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com
Argininosuccinic aciduria information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, ... Contents for Argininosuccinic aciduria: *Argininosuccinic aciduria *What is Argininosuccinic aciduria? *Prevalence and ... Causes of Argininosuccinic aciduria *Symptoms of Argininosuccinic aciduria *Diagnostic Tests for Argininosuccinic aciduria * ... Home Testing and Argininosuccinic aciduria *Signs of Argininosuccinic aciduria *Complications of Argininosuccinic aciduria * ...
https://www.rightdiagnosis.com/a/argininosuccinic_aciduria/intro.htm
Argininosuccinic aciduriaArgininosuccinic aciduria
... external resources argininosuccinate ICD-10 E72.2 ICD-9 270.6 OMIM 207900 Argininosuccinic ... Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases ... Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes ammonia to accumulate in ... In argininosuccinic aciduria, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea ...
https://www.chemeurope.com/en/encyclopedia/Argininosuccinic_aciduria.html
Psychology of Medicine: Argininosuccinic aciduriaPsychology of Medicine: Argininosuccinic aciduria
Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases ... Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes the accumulation of ... 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 ...
http://monsterologist.blogspot.com/2014/11/argininosuccinic-aciduria.html
Argininosuccinic Aciduria; Arginino Succinase DeficiencyArgininosuccinic Aciduria; Arginino Succinase Deficiency
... On-line free medical diagnosis assistant. Ranked list of possible ... "Argininosuccinic Aciduria"Drugs, active principles and "Argininosuccinic Aciduria"Medicinal plantsQuestions and answers from ... Argininosuccinic Aciduria (Arginino Succinase Deficiency). 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 ...
http://lookfordiagnosis.com/mesh_info.php?term=Argininosuccinic+Aciduria&lang=1
Medical Home Portal - Argininosuccinic AciduriaMedical Home Portal - Argininosuccinic Aciduria
PubMed search for argininosuccinic aciduria, last 5 years.. Mercimek-Mahmutoglu S, Moeslinger D, Häberle J, Engel K, Herle M, ... Argininosuccinic Aciduria - Information for Parents (STAR-G). A fact sheet, written by a genetic counselor and reviewed by ... Argininosuccinic Aciduria Acute Illness Protocol (NECMP). Guideline for clinicians treating the sick infant/child who has ... Argininosuccinic Aciduria (OMIM). Extensive review of literature providing technical information for providers on genetic ...
https://www.medicalhomeportal.org/newborn/argininosuccinic-aciduria
Chrissy Teigen Says Shes Back on Social Media After Pregnancy LossChrissy Teigen Says She's 'Back' on Social Media After Pregnancy Loss
World Argininosuccinic Aciduria (ASA) Epidemiology Forecast to 2030 - ResearchAndMarkets.com. The Argininosuccinic Aciduria ( ...
https://www.yahoo.com/now/chrissy-teigen-says-shes-back-030114181.html
Argininosuccinic aciduria | Genetic and Rare Diseases Information Center (GARD) - an NCATS ProgramArgininosuccinic aciduria | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Argininosuccinic aciduria ... Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may ... Argininosuccinic aciduria Title Other Names:. Arginino succinase deficiency; Inborn error of urea synthesis, arginino succinic ... Argininosuccinic aciduria. Genetics Home Reference (GHR). 2007; http://www.ghr.nlm.nih.gov/condition/argininosuccinic-aciduria ...
https://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=cluster&id=26551
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
Infants with Congenital Disorders Identified Through Newborn Screening - United States, 2015-2017 | MMWRInfants with Congenital Disorders Identified Through Newborn Screening - United States, 2015-2017 | MMWR
Argininosuccinic aciduria. 59. 11,750,876. 0.05. 0.02. 0.03. 19. Tyrosinemia, type I. 22. 11,750,876. 0.02. NR*. -*. 7. ... 3-Hydroxy-3-methylglutaric aciduria. 6. 11,750,876. 0.01. 0.01. −0.00. 2. 3-Methylcrotonyl-CoA carboxylase deficiency. 293. ...
https://www.cdc.gov/mmwr/volumes/69/wr/mm6936a6.htm
Arsenic toxicity (Arsenicism, Arsenicosis, Arsenical Keratoses, Arsenical pigmentation, Mees lines - Clinical AdvisorArsenic toxicity (Arsenicism, Arsenicosis, Arsenical Keratoses, Arsenical pigmentation, Mees' lines - Clinical Advisor
Argininosuccinic Aciduria Back to Top *. .site-footer table td {border-collapse:collapse;border-style:none !important;}.site- ...
https://www.clinicaladvisor.com/home/dermatology/arsenic-toxicity-arsenicism-arsenicosis-arsenical-keratoses-arsenical-pigmentation-mees-lines/
Search of: N-acetylglutamate synthase deficiency OR Amino Acid Metabolism, Inborn Errors - List Results - ClinicalTrials.govSearch of: 'N-acetylglutamate synthase deficiency' OR 'Amino Acid Metabolism, Inborn Errors' - List Results - ClinicalTrials.gov
Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder. *Argininosuccinic Aciduria ...
https://clinicaltrials.gov/ct2/results?cond=%22N-acetylglutamate%20synthase%20deficiency%22%20OR%20%22Amino%20Acid%20Metabolism%2C%20Inborn%20Errors%22
IJNS | Free Full-Text | The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention:...IJNS | Free Full-Text | The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention:...
Argininosuccinic aciduria. ASA. Y. Citrullinemia type I. CIT. Y. Maple syrup urine disease. MSUD. Y. ...
https://www.mdpi.com/2409-515X/1/1/13/htm
Fetal tissue amino acid concentrations in argininosuccinic aciduria and in maternal homocystinuria - Fingerprint - UTMB...Fetal tissue amino acid concentrations in argininosuccinic aciduria and in 'maternal homocystinuria' - Fingerprint - UTMB...
Fingerprint Dive into the research topics of Fetal tissue amino acid concentrations in argininosuccinic aciduria and in ... Fetal tissue amino acid concentrations in argininosuccinic aciduria and in "maternal homocystinuria". ...
https://researchexperts.utmb.edu/en/publications/fetal-tissue-amino-acid-concentrations-in-argininosuccinic-acidur/fingerprints/
Rare childhood diseases | Action Medical ResearchRare childhood diseases | Action Medical Research
Argininosuccinic aciduria: developing a new treatment for this rare disorder Research date: 14 October 2013 - 30 September 2017 ...
https://www.action.org.uk/category/rare-childhood-diseases
Rare Diseases List and Definitions | Disabled WorldRare Diseases List and Definitions | Disabled World
Argininosuccinic Aciduria. *Aromatic L-Amino Acid Decarboxylase Deficiency. *Arterial Tortuosity Syndrome. *Arteriovenous ...
https://www.disabled-world.com/definitions/lists/rare-disease.php
451910: Inheritest® Gene-specific Sequencing, NGS | LabCorp451910: Inheritest® Gene-specific Sequencing, NGS | LabCorp
Argininosuccinic aciduria; Arthrogryposis, mental retardation, and seizures (AMRS); Aspartylglucosaminuria; Ataxia with vitamin ... Argininosuccinic aciduria; Arthrogryposis, mental retardation, and seizures (AMRS); Aspartylglucosaminuria; Ataxia with vitamin ... Argininosuccinic aciduria; Arthrogryposis, mental retardation, and seizures (AMRS); Aspartylglucosaminuria; Ataxia with vitamin ...
https://www.labcorp.com/test-menu/29581/inheritest%C2%AE-gene-specific-sequencing-ngs
Decreased hair growth and Face bruise - Symptom Checker - check medical symptoms at RightDiagnosisDecreased hair growth and Face bruise - Symptom Checker - check medical symptoms at RightDiagnosis
4. Argininosuccinic aciduria. 5. Autoimmune thyroid diseases. 6. Automobile accidents injury. 7. BIDS syndrome. 8. Bamforth ...
http://wrongdiagnosis.com/cosymptoms/decreased-hair-growth/face-bruise.htm
Dacryoadenitis and Decreased hair growth - Symptom Checker - check medical symptoms at RightDiagnosisDacryoadenitis and Decreased hair growth - Symptom Checker - check medical symptoms at RightDiagnosis
4. Argininosuccinic aciduria. 5. Autoimmune thyroid diseases. 6. Bacterial diseases. 7. Bamforth syndrome. 8. Basan syndrome. 9 ...
https://wrongdiagnosis.com/cosymptoms/dacryoadenitis/decreased-hair-growth.htm
Gissen P[au] - PubMed - NCBIGissen P[au] - PubMed - NCBI
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.. Baruteau J, Perocheau DP, Hanley ... Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.. Baruteau J, Diez-Fernandez C, Lerner ... Expanding the phenotype in argininosuccinic aciduria: need for new therapies.. Baruteau J, Jameson E, Morris AA, Chakrapani A, ...
https://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Gissen+P%5Bau%5D&dispmax=50
ADSL Gene - GeneCards | PUR8 Protein | PUR8 AntibodyADSL Gene - GeneCards | PUR8 Protein | PUR8 Antibody
argininosuccinic aciduria. *argininosuccinase deficiency. *9165520. lesch-nyhan syndrome. *lns. *8976090. epilepsy. *epilepsy ...
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ADSL&keywords=GH22J040155&prefilter=genomic_location
All results - Brain Tumour Charity - British Inherited Metabolic Disease Group | Evidence search | NICEAll results - Brain Tumour Charity - British Inherited Metabolic Disease Group | Evidence search | NICE
Hyperammonaemia: urea cycle disorders - citrullinaemia and argininosuccinic aciduria [PDF] Remove: British Inherited Metabolic ... Glutaric aciduria type 1 : acute decompensation [PDF] Remove: British Inherited Metabolic Disease Group source - 01 January ... Glutaric aciduria is an inherited disorder of the breakdown of certain amino acids, notably lysine. Any metabolic stress can ...
https://www.evidence.nhs.uk/search?cid=5551&om=%5B%7B%22srn%22:%5B%22British%20Inherited%20Metabolic%20Disease%20Group%22%5D%7D,%7B%22srn%22:%5B%22Brain%20Tumour%20Charity%22%5D%7D%5D&sp=on
All results - British Inherited Metabolic Disease Group - Richard Wells Research Centre | Evidence search | NICEAll results - British Inherited Metabolic Disease Group - Richard Wells Research Centre | Evidence search | NICE
Hyperammonaemia: urea cycle disorders - citrullinaemia and argininosuccinic aciduria [PDF] Remove: British Inherited Metabolic ... Glutaric aciduria type 1 : acute decompensation [PDF] Remove: British Inherited Metabolic Disease Group source - 01 January ... Glutaric aciduria is an inherited disorder of the breakdown of certain amino acids, notably lysine. Any metabolic stress can ...
https://www.evidence.nhs.uk/search?cid=5551&om=%5B%7B%22srn%22:%5B%22British%20Inherited%20Metabolic%20Disease%20Group%22%5D%7D,%7B%22srn%22:%5B%22Richard%20Wells%20Research%20Centre%22%5D%7D%5D&sp=on
Inborn Errors of Metabolism program | Australian Government Department of HealthInborn Errors of Metabolism program | Australian Government Department of Health
argininosuccinicaciduria (ASA lyase deficiency). *carbamyl phosphate synthase (CPS). *citrullinaemia (ASA synthase deficiency) ... glutaric aciduria type I (glutaryl CoA dehydrogenase deficiency). *isovaleric aciduria. *methylmalonic acidaemia ...
https://www.health.gov.au/initiatives-and-programs/inborn-errors-of-metabolism-program
Urea cycle - WikipediaUrea cycle - Wikipedia
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
European Medicines Agency - Human medicines - EU/3/10/736European Medicines Agency - Human medicines - EU/3/10/736
What is argininosuccinic aciduria?. Argininosuccinic aciduria is one of the inherited disorders known as urea cycle disorders ... Patients with argininosuccinic aciduria lack argininosuccinate lyase, one of the liver enzymes that are needed to get rid of ... Argininosuccinic aciduria is a long-term debilitating and life-threatening disease that leads to mental retardation and is ... approximately 0.06 people in 10,000 for argininosuccinic aciduria. This is equivalent to a total of around 3,000 people in the ...
http://www.ema.europa.eu/ema/index.jsp?curl=pages/medicines/human/orphans/2010/06/human_orphan_000762.jsp&murl=menus/medicines/medicines.jsp&mid=WC0b01ac058001d12b
Adenosine phosphate - DrugBankAdenosine phosphate - DrugBank
Argininosuccinic Aciduria. Disease. Glycine and Serine Metabolism. Metabolic. Ammonia Recycling. Metabolic. Propanoate ...
https://www.drugbank.ca/drugs/DB00131
AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesTechnology, Industry, AgricultureInformation ScienceHealth CareGeographicals
Argininosuccinic AcidArgininosuccinic AciduriaArgininosuccinate LyaseAmino Acid Metabolism, Inborn ErrorsArginineArgininosuccinate SynthaseGlutaratesMedical History TakingSulfite OxidaseMetabolism, Inborn ErrorsCerebrospinal FluidUric AcidSulfite Reductase (Ferredoxin)Oxidoreductases Acting on Sulfur Group DonorsProtein Disulfide Reductase (Glutathione)Rare DiseasesOrphan Drug ProductionDrug RepositioningWaiting ListsTerminology as TopicLymphangioleiomyomatosisLithiasisHairContusionsDiagnostic ErrorsHair FollicleAlopeciaFaceCellulitisAustraliaRural Health ServicesProgram EvaluationNeonatal ScreeningLipid Metabolism, Inborn ErrorsAdenine NucleotidesPhosphatesAdenosineDatabases, PharmaceuticalPharmacological ProcessesDatabases, ChemicalAdenosine Monophosphate
DeficiencyCitrullinemiaHyperammonemiaAcidemiaInherited disorderLyaseAutosomalArginineUrea cycleHyperornithinemiaDisorder of the ureaGlutaric aciduriaForm argininosuccinic acidCauses neurological problemsDiagnosisSyndromeDiseasesMental retardationComaLethargicNervous systemGeneComplicationsBuphenylSymptomsLiver
Deficiency10
  • The enzyme deficiency leads to accumulation of argininosuccinic acid in all body fluids and progressive and severe hyperammonemia. (oncologynurseadvisor.com)
  • Citrulline level is normal in arginine deficiency and is markedly elevated in argininosuccinic lyase deficiency, usually 100 times the upper limit of the normal range. (oncologynurseadvisor.com)
  • Argininosuccinic acid in plasma and urine permits the specific diagnosis of Argininosuccinic lyase deficiency. (oncologynurseadvisor.com)
  • presumed to be the consequence of a deficiency of an enzyme responsible for splitting argininosuccinic acid to arginine and fumaric acid. (thefreedictionary.com)
  • In humans, the natural history of argininosuccinic aciduria caused by deficiency of ASL shows systemic and chronic features that reflect in part global dysregulation of NO homeostasis. (thefreedictionary.com)
  • The long-awaited clinical trial 'Effect of Nitric Oxide Supplementation on Neurocognitive Functions in Patients With Argininosuccinate Lyase Deficiency/Argininosuccinic Aciduria (ASLD/ASA)' is now open for enrollment at Baylor College of Medicine (one of the UCD Research Consortium clinical research sites) in Houston, Texas. (nucdf.org)
  • Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen. (semanticscholar.org)
  • Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. (thermofisher.com)
  • The specific disorders are: N-acetylglutamate synthase (NAGS) deficiency, Carbamyl phosphate synthetase I (CPSI) deficiency, Ornithine transcarbamylase (OTC) deficiency, Argininosuccinate synthetase (AS) deficiency (Citrullinemia), Argininosuccinate lyase (AL) deficiency (Argininosuccinic aciduria), Arginase (ARG) deficiency (Argininemia), Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome (or mitochondrial ornithine carrier deficiency-ORNT), and Citrullinemia type II (mitochondrial aspartate/glutamate carrier deficiency-CITR). (pubmedcentralcanada.ca)
  • Succinic semialdehyde dehydrogenase deficiency ( SSADHD ), also known as 4-hydroxybutyric aciduria or gamma-hydroxybutyric aciduria , is a rare autosomal recessive disorder [1] of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid , or GABA . (wikipedia.org)
Citrullinemia2
  • In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases) and argininosuccinic aciduria (two cases) are presented in terms of clinical course and treatment responses. (thefreedictionary.com)
  • The false-positive and -negative rates for acute neonatal citrullinemia and argininosuccinic aciduria appear to be low because we have diagnosed several cases in newborns. (thefreedictionary.com)
Hyperammonemia2
  • Argininosuccinic aciduria is a rare disorder and may be one of many metabolic abnormalities considered in any child with significant metabolic derangements specifically associated with hyperammonemia. (oncologynurseadvisor.com)
  • Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe hyperammonemia . (lookfordiagnosis.com)
Acidemia1
  • Argininosuccinic aciduria , also called argininosuccinic acidemia , is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in the blood and urine. (blogspot.com)
Inherited disorder2
  • Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. (medlineplus.gov)
  • Glutaric aciduria is an inherited disorder of the breakdown of certain amino acids, notably lysine. (evidence.nhs.uk)
Lyase9
Autosomal1
Arginine1
  • Consequently, as in argininosuccinic aciduria, both waste nitrogen molecules normally eliminated by the urea cycle are incorporated into the arginine substrate molecule in the reaction. (medscape.com)
Urea cycle9
  • Argininosuccinic aciduria is one of six disorders effecting the biosynthesis of enzymes of the urea cycle. (oncologynurseadvisor.com)
  • Argininosuccinic aciduria (ASA) is a type of urea cycle disorder that is characterized specifically by high levels of argininosuccinic acid, a chemical involved in the urea cycle. (clinicaltrials.gov)
  • However, because ASA is the only urea cycle disorder that is characterized by both liver damage and elevated levels of argininosuccinic acid, researchers believe that the elevated acid levels cause the liver damage. (clinicaltrials.gov)
  • Results from the metabolic screen indicate argininosuccinic aciduria , a urea cycle defect. (thefreedictionary.com)
  • Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders . (chemeurope.com)
  • In argininosuccinic aciduria, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. (chemeurope.com)
  • Argininosuccinic aciduria is one of the inherited disorders known as 'urea cycle disorders', which cause ammonia to accumulate in the blood. (europa.eu)
  • Quantification of orotic acid (uracil-6-carboxylic acid) in urine is an important tool to diagnose some inherited diseases, such as urea cycle disorder (OTCD) and hereditary orotic aciduria. (biomedsearch.com)
  • Networking across borders for individuals with organic acidurias and urea cycle disorders: The E-IMD Consortium. (rarediseasesnetwork.org)
Hyperornithinemia1
  • Other disorders identified, including the hyperglycinemias, argininosuccinic aciduria, hyperlysinemia, hyperornithinemia, and the Fanconi syndrome (Group II) each has a frequency that seems to be no greater than 1:200,000 of the population. (aappublications.org)
Disorder of the urea1
Glutaric aciduria1
  • Figure 8 MRI (T2 W) in a 15 months old baby with glutaric aciduria type 1. (biology-online.org)
Form argininosuccinic acid1
Causes neurological problems2
  • This buildup of ammonia damages the brain and other tissues and causes neurological problems and other signs and symptoms of argininosuccinic aciduria. (medlineplus.gov)
  • Ammonia is especially damaging to the nervous system, so argininosuccinic aciduria causes neurological problems as well as eventual damage to the liver. (chemeurope.com)
Diagnosis2
  • Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. (medlineplus.gov)
  • Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. (naver.com)
Syndrome1
  • 1 Congenital TN is rare and can occur in syndromes such as pseudomonilethrix, Netherton syndrome, pili annulati, 2 argininosuccinic aciduria, 3 trichothiodystrophy, 4 Menkes syndrome, 5 and trichohepatoenteric syndrome. (mdedge.com)
Diseases1
  • Argininosuccinic aciduria is listed as a " rare disease " by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). (rightdiagnosis.com)
Mental retardation1
  • Argininosuccinic aciduria is a long-term debilitating and life-threatening disease that leads to mental retardation and is associated with poor overall survival. (europa.eu)
Coma1
  • An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly-controlled breathing rate or body temperature , experience seizures or unusual body movements, or go into a coma. (chemeurope.com)
Lethargic1
  • An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have a poorly controlled breathing rate or body temperature. (medlineplus.gov)
Nervous system1
  • Ammonia is toxic, especially to the nervous system, and argininosuccinic aciduria usually becomes evident in the first few days of life. (chemeurope.com)
Gene2
  • Mutations in the ASL gene cause argininosuccinic aciduria. (medlineplus.gov)
  • Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer. (ucl.ac.uk)
Complications2
  • Complications from argininosuccinic aciduria may include developmental delay and intellectual disability. (medlineplus.gov)
  • Complications from argininosuccinic aciduria may include developmental delay , intellectual disability , progressive liver damage, skin lesions, and brittle hair. (cdc.gov)
Buphenyl1
Symptoms1
  • More detailed information about the symptoms , causes , and treatments of Argininosuccinic aciduria is available below. (rightdiagnosis.com)
Liver1
Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD - Full Text View - ClinicalTrials.gov
Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD - Full Text View - ClinicalTrials.gov (clinicaltrials.gov)
ASL gene: MedlinePlus Genetics
ASL gene: MedlinePlus Genetics (medlineplus.gov)
Chrissy Teigen Says She's 'Back' on Social Media After Pregnancy Loss
Chrissy Teigen Says She's 'Back' on Social Media After Pregnancy Loss (yahoo.com)
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)
Hereditary urea cycle abnormality: MedlinePlus Medical Encyclopedia
Hereditary urea cycle abnormality: MedlinePlus Medical Encyclopedia (medlineplus.gov)
Amino Acid Metabolism Disorders: MedlinePlus
Amino Acid Metabolism Disorders: MedlinePlus (medlineplus.gov)
Genetic Brain Disorders | MedlinePlus
Genetic Brain Disorders | MedlinePlus (medlineplus.gov)
Rare childhood diseases | Action Medical Research
Rare childhood diseases | Action Medical Research (action.org.uk)
Rare Diseases List and Definitions | Disabled World
Rare Diseases List and Definitions | Disabled World (disabled-world.com)
Inborn Errors of Metabolism program | Australian Government Department of Health
Inborn Errors of Metabolism program | Australian Government Department of Health (health.gov.au)
Newborn Screening: MedlinePlus
Newborn Screening: MedlinePlus (medlineplus.gov)
Adenosine phosphate - DrugBank
Adenosine phosphate - DrugBank (drugbank.ca)
L-Glutamine - DrugBank
L-Glutamine - DrugBank (drugbank.ca)
Aspartic acid - DrugBank
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A - Health Conditions - Genetics Home Reference - NIH
A - Health Conditions - Genetics Home Reference - NIH (ghr.nlm.nih.gov)
Human Metabolome Database: Showing metabocard for Hippuric acid (HMDB0000714)
Human Metabolome Database: Showing metabocard for Hippuric acid (HMDB0000714) (hmdb.ca)
Argininosuccinic Aciduria - Renal and Urology News
Argininosuccinic Aciduria - Renal and Urology News (renalandurologynews.com)
Soorten - Boks
Soorten - Boks (boks.be)
Digestive symptoms - RightDiagnosis.com
Digestive symptoms - RightDiagnosis.com (rightdiagnosis.com)
Citrullinemia, Classic disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Citrullinemia, Classic disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials (malacards.org)
Temperature symptoms - RightDiagnosis.com
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Search Donors - Xytex
Search Donors - Xytex (xytex.com)
Urea Cycle Diseases | Springer for Research & Development
Urea Cycle Diseases | Springer for Research & Development (rd.springer.com)
Approach to diagnosis of metabolic diseases - IOS Press
Approach to diagnosis of metabolic diseases - IOS Press (content.iospress.com)
Differential Diagnosis - UMDF
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The Citrulline Recycling Pathway Sustains Cardiovascular Function in Arginine-Depleted Healthy Mice, but Cannot Sustain Nitric...
The Citrulline Recycling Pathway Sustains Cardiovascular Function in Arginine-Depleted Healthy Mice, but Cannot Sustain Nitric... (deepdyve.com)
Welcome to the National Urea Cycle Disorders Foundation
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Arginase Deficiency: Background, Pathophysiology, Epidemiology
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