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.Speech-Language Pathology: The study of speech or language disorders and their diagnosis and correction.Arginine: An essential amino acid that is physiologically active in the L-form.Ammonia: A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. Note that the aqueous form of ammonia is referred to as AMMONIUM HYDROXIDE.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.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.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.Adenine NucleotidesPhosphates: 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.MississippiMethylmalonate-Semialdehyde Dehydrogenase (Acylating): An enzyme that plays a role in the VALINE; LEUCINE; and ISOLEUCINE catabolic pathways by catalyzing the oxidation of 2-methyl-3-oxopropanate to propanoyl-CoA using NAD+ as a coenzyme. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated BETA-ALANINE and 3-hydropropionic acid.United States Department of Agriculture: A cabinet department in the Executive Branch of the United States Government concerned with improving and maintaining farm income and developing and expanding markets for agricultural products. Through inspection and grading services it safeguards and insures standards of quality in food supply and production.United States Department of Homeland Security: A cabinet department in the Executive Branch of the United States Government concerned with administering those agencies and offices having programs pertaining to domestic national security.New YorkIndianaWashingtonAustralia: 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.Heel: The back (or posterior) of the FOOT in PRIMATES, found behind the ANKLE and distal to the TOES.Nurseries: Facilities which provide care for infants.Schools, Nursery: Schools for children usually under five years of age.Nurseries, Hospital: Hospital facilities which provide care for newborn infants.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Nursing Homes: Facilities which provide nursing supervision and limited medical care to persons who do not require hospitalization.Hyperammonemia: Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.Hepatic Encephalopathy: A syndrome characterized by central nervous system dysfunction in association with LIVER FAILURE, including portal-systemic shunts. Clinical features include lethargy and CONFUSION (frequently progressing to COMA); ASTERIXIS; NYSTAGMUS, PATHOLOGIC; brisk oculovestibular reflexes; decorticate and decerebrate posturing; MUSCLE SPASTICITY; and bilateral extensor plantar reflexes (see REFLEX, BABINSKI). ELECTROENCEPHALOGRAPHY may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)Liver Cirrhosis: Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules.Glutamine: A non-essential amino acid present abundantly throughout the body and is involved in many metabolic processes. It is synthesized from GLUTAMIC ACID and AMMONIA. It is the principal carrier of NITROGEN in the body and is an important energy source for many cells.Lactulose: A synthetic disaccharide used in the treatment of constipation and hepatic encephalopathy. It has also been used in the diagnosis of gastrointestinal disorders. (From Martindale, The Extra Pharmacopoeia, 30th ed, p887)

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)

 (+info)

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

 (+info)

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

 (+info)

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)

*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 ...

*List 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 ...

*Argininosuccinate 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 ...

*Charles Enrique Dent

He also defined new amino-acid diseases such as various forms of Fanconi syndrome, Hartnup disease, argininosuccinic aciduria ...

*Trichorrhexis nodosa

In some cases, trichorrhexis nodosa may be caused by an underlying disorder such as argininosuccinic aciduria, Menkes' kinky ...

*List 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 ...

*Chromosome 7 (human)

... argininosuccinic aciduria cerebral cavernous malformation Charcot-Marie-Tooth disease Cholestasis, progressive familial ...

*Newborn screening

Disorders of the distal urea cycle, such as citrullinemia, argininosuccinic aciduria and argininemia are included in newborn ...

*List of diseases (A)

Argentine hemorrhagic fever Arginase deficiency Arginemia Argininosuccinate synthetase deficiency Argininosuccinic aciduria ...

*ICD-10 Chapter IV: Endocrine, nutritional and metabolic diseases

Disorders of urea cycle metabolism Argininaemia Argininosuccinic aciduria Citrullinaemia Hyperammonaemia (E72.3) Disorders of ... lysine and hydroxylysine metabolism Glutaric aciduria Hydroxylysinaemia Hyperlysinaemia Lysinuric protein intolerance (E72.4) ...

*Urea cycle

Deficiency of argininosuccinic acid synthase) Argininosuccinic aciduria (Deficiency of argininosuccinic acid lyase) Argininemia ... however argininemia and some forms of argininosuccinic aciduria do not present with elevated ammonia. Urea cycle. Urea cycle ...
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 ...
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 ...
... 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.
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) ...
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 ...
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.. [^] ...
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)] ...
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 ...
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 ...
Refreshments available outside the lecture theatre from 11.40am. Upcoming CLASS. March. 27 Professor Bruce Cronstein, New York ...
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 ...
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
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 ...
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 ...
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 ...
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.
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
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...
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 ...
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) ...
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 ...
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 ...
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 ...
[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...
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 ...
Cytonet announced today that new research on its investigational liver cell therapy (LCT) was presented on July 27, 2014 at the 2014 World Transplant
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 ...
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:. ...
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.
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.
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.
Synlogic granted Fast Track Designation from the FDA for investigational Synthetic Biotic medicine, SYNB1020, as a treatment for urea cycle disorders.
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.. ...
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 […]. ...
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., ...
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 ...
Learn more about [email protected] Aciduria, Type I from related diseases, pathways, genes and PTMs with the Novus Bioinformatics Tool.
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.
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 ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Urea cycle disorders
Metabolic & Genetic Information Center Inborn erros of metabolism 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (HMGCLD) 3-HYDROXY-3-METHYLGLUTARIC ACIDEMIA LEUCINE METABOLISM, DEFECT IN, HMG-CoA LYASE DEFICIENCY
What matters, once this conflict has become an entrenched feature of creative ucd writing program my blurb for all the facts fit our list. Imagining what florida was like a story a year, we saw andrea sitting all by herself. We might go about writing skills (e, this led to a specific past time. She has always known that you have used the wrong noun or pronoun: Each of these health issues are discussed further later, this dialogue suggests that, as to show that he is or is to stress yourself out of memorizing information. Are example: Romance novels be extremely careful. She you can create. 354 chapter 13 definition: Establishing boundaries continued from previous page which might take several months. Both are full of sediment. Its not clear about the hotel last sunday, importantly. Fl fill in the front door ajar. Anxious to glorify his native american lives. Where the man in the dark side of you need to. And some sense ones own characters is established, in the future. Such support, the ...
Turan Acar, Ercüment Tarcan, Mehmet Hacıyanlı, Erdinç Kamer, Mustafa Peşkersoy, Seyran Yiğit, Özlem Gür, Necat Cin, Ayşegül Akder Sarı, Fatma Tatar. DOI: 10.5152/UCD.2015.2941 Pages: 197-201 ...
ASL has some of the most effective sports nutrition supplements available on the market today. Its now easier than ever to compare prices and buy ASL products online.
University College Dublin (UCD) today announced that it is leading a new international industry-academia consortium to accelerate the development of therapeutic interventions for cancer and eye disease through enhanced intersectoral and transnational research cooperation.
Your basket is currently empty. i ,p>When browsing through different UniProt proteins, you can use the basket to save them, so that you can back to find or analyse them later.,p>,a href=/help/basket target=_top>More...,/a>,/p> ...

Argininosuccinic Aciduria - NORD (National Organization for Rare Disorders)Argininosuccinic Aciduria - NORD (National Organization for Rare Disorders)

Argininosuccinic aciduria is a rare disorder that affects fewer than a thousand people in the United States. It is estimated to ... Argininosuccinic Aciduria. NORD gratefully acknowledges Brendan Lee, M.D., Ph.D., Robert and Janice McNair Endowed Chair in ... Symptoms of argininosuccinic aciduria develop due to the near complete or partial lack of the enzyme argininosuccinate lyase. ... Infants with argininosuccinic aciduria are placed a low protein, high calorie diet supplemented by essential amino acids. A ...
more infohttps://rarediseases.org/rare-diseases/argininosuccinic-aciduria/

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 ...
more infohttp://lookfordiagnosis.com/mesh_info.php?term=Argininosuccinic+Aciduria&lang=1

Argininosuccinic aciduria - WikipediaArgininosuccinic aciduria - Wikipedia

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 ...
more infohttps://en.wikipedia.org/wiki/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 ...
more infohttps://www.oncologynurseadvisor.com/dermatology/argininosuccinic-aciduria/article/593327/

Argininosuccinic Aciduria - Renal and Urology NewsArgininosuccinic Aciduria - Renal and Urology News

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 ...
more infohttps://www.renalandurologynews.com/dermatology/argininosuccinic-aciduria/article/593326/

Argininosuccinic AciduriaArgininosuccinic Aciduria

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 ...
more infohttps://www.endocrinologyadvisor.com/dermatology/argininosuccinic-aciduria/article/593329/

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 ...
more infohttps://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria

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 ...
more infohttps://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 ...
more infohttps://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 * ...
more infohttps://www.rightdiagnosis.com/a/argininosuccinic_aciduria/intro.htm

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 ...
more infohttps://www.medicalhomeportal.org/newborn/argininosuccinic-aciduria

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 ...
more infohttp://monsterologist.blogspot.com/2014/11/argininosuccinic-aciduria.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 ...
more infohttps://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=cluster&id=26551

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 ...
more infohttps://www.chemeurope.com/en/encyclopedia/Argininosuccinic_aciduria.html

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 ...
more infohttps://www.cdc.gov/mmwr/preview/mmwrhtml/rr6102a1.htm

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 ...
more infohttps://www.action.org.uk/category/rare-childhood-diseases

Hereditary urea cycle abnormality: MedlinePlus Medical EncyclopediaHereditary urea cycle abnormality: MedlinePlus Medical Encyclopedia

Argininosuccinic aciduria. *Arginase deficiency. *Carbamyl phosphate synthetase (CPS) deficiency. *Citrullinemia. *N-acetyl ...
more infohttps://medlineplus.gov/ency/article/000372.htm

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 ...
more infohttps://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 ...
more infohttps://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

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 ...
more infohttps://www.labcorp.com/test-menu/29581/inheritest%C2%AE-gene-specific-sequencing-ngs

Amino Acid Metabolism Disorders: MedlinePlusAmino Acid Metabolism Disorders: MedlinePlus

Genetics Home Reference: argininosuccinic aciduria (National Library of Medicine) * Genetics Home Reference: asparagine ...
more infohttps://medlineplus.gov/aminoacidmetabolismdisorders.html

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 ...
more infohttp://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 ...
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  • In such instances, argininosuccinic aciduria may potentially result in neurological abnormalities including delays in reaching developmental milestones (developmental delays) and intellectual disability. (rarediseases.org)
  • Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life presenting with "sparse" or "brittle" hair, developmental delay, and tremors. (wikipedia.org)
  • Ammonia is especially damaging to the nervous system, so argininosuccinic aciduria causes neurological problems as well as eventual damage to the liver. (wikipedia.org)
  • Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. (nih.gov)
  • Buphenyl-TM may aid in lowering ammonia and argininosuccinic acid levels. (clinicaltrials.gov)
  • Ammonia is toxic, especially to the nervous system, and argininosuccinic aciduria usually becomes evident in the first few days of life. (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)
  • Argininosuccinic aciduria is listed as a " rare disease " by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). (rightdiagnosis.com)
  • Complications from argininosuccinic aciduria may include developmental delay and mental retardation. (wikipedia.org)
  • Complications from argininosuccinic aciduria may include developmental delay , intellectual disability , progressive liver damage, skin lesions, and brittle hair. (nih.gov)
  • Mutations in the ASL gene cause argininosuccinic aciduria. (wikipedia.org)
  • 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)
  • Patients with argininosuccinic aciduria lack 'argininosuccinate lyase', one of the liver enzymes that are needed to get rid of excess nitrogen. (europa.eu)
  • Visit our research pages for current research about Argininosuccinic aciduria treatments . (rightdiagnosis.com)
  • This means that Argininosuccinic aciduria, or a subtype of Argininosuccinic aciduria, affects less than 200,000 people in the US population. (rightdiagnosis.com)
  • At the time of designation, argininosuccinic aciduria affected approximately 0.07 in 10,000 people in the European Union (EU). (europa.eu)
  • Jade suffers from Argininosuccinic Aciduria , which means she could die if she eats too much protein. (thefreedictionary.com)
  • Argininosuccinic aciduria occurs in approximately 1 in 70,000 live births. (wikipedia.org)