Argininosuccinic aciduria - Wikipedia
Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases ... Argininosuccinic aciduria is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") ... Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life ... An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly controlled breathing rate or ...
Argininosuccinic 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 ...
Argininosuccinic Aciduria - CAGS
Argininosuccinic aciduria is an autosomal recessive disorder characterized by hyperammonemia due to defects in the ... The late-onset form of argininosuccinic aciduria is milder and symptoms, usually episodic, appear as a result of infection or ... Among 82 patients, three were diagnosed with argininosuccinic aciduria.. In a 10-year study conducted by Al-Riyami et al. (2012 ... 2010) estimated the incidence of argininosuccinic aciduria as 4 in 100,000 live births in a review study conducted between 1983 ...
ASL gene: MedlinePlus Genetics
Argininosuccinic aciduria. More than 130 mutations in the ASL gene have been found to cause argininosuccinic aciduria. In some ... Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. J Inherit Metab Dis. 2005;28(6):877 ... A mouse model of argininosuccinic aciduria: biochemical characterization. Mol Genet Metab. 2003 Jan;78(1):11-6. doi: 10.1016/ ... in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria. Tohoku J Exp Med. 2002 Oct;198(2):119-24. doi ...
Argininosuccinic Aciduria - The Effects of the Formula Shortage on the Metabolic Community
Good Laboratory Practices for Biochemical Genetic Testing and Newborn Screening for Inherited Metabolic Disorders
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria. | Hum Mutat;41(5): 946-960,...
Argininosuccinic aciduria (ASA) is an inherited urea cycle disorder and has a highly variable phenotypic spectrum ranging from ... From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.. Zielonka, Matthias; Garbade, ... Aciduria Argininosuccínica/diagnóstico Aciduria Argininosuccínica/genética Estudios de Asociación Genética Predisposición ... Aciduria Argininosuccínica/metabolismo Biomarcadores Niño Preescolar Activación Enzimática Femenino Expresión Génica Estudios ...
Urea Cycle - Basic Neurochemistry - NCBI Bookshelf
Patients with citrullinemia, caused by a deficiency of AS, or argininosuccinic aciduria, caused by a deficiency of AL, will ... Argininosuccinic aciduria results from a deficiency in arginosuccinic lyase, preventing the formation of arginine. Patients ... Argininosuccinic aciduria results from a deficiency in arginosuccinic lyase, preventing the formation of arginine ... A useful adjunct to treatment in cases of citrullinemia and argininosuccinic aciduria is supplementation of the diet with ...
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice | Nature Communications
Argininosuccinate Lyase (ASL) Deficiency: Background, Pathophysiology, Epidemiology
Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. J Pediatr. 1980 Mar. 96(3 Pt 1):429- ... Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. Am J Hum ... Erez A, Nagamani SC, Lee B. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. Am J Med Genet C Semin Med ... A mouse model of argininosuccinic aciduria: biochemical characterization. Mol Genet Metab. 2003 Jan. 78(1):11-6. [QxMD MEDLINE ...
Argininosuccinate Lyase (ASL) Deficiency Clinical Presentation: History, Physical, Causes
Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. J Pediatr. 1980 Mar. 96(3 Pt 1):429- ... Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. Am J Hum ... Erez A, Nagamani SC, Lee B. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. Am J Med Genet C Semin Med ... A mouse model of argininosuccinic aciduria: biochemical characterization. Mol Genet Metab. 2003 Jan. 78(1):11-6. [QxMD MEDLINE ...
Genetic Brain Disorders | MedlinePlus
Argininosuccinic aciduria: MedlinePlus Genetics (National Library of Medicine) * Aromatic l-amino acid decarboxylase deficiency ... 2-hydroxyglutaric aciduria: MedlinePlus Genetics (National Library of Medicine) * 3-hydroxy-3-methylglutaryl-CoA lyase ... Combined malonic and methylmalonic aciduria: MedlinePlus Genetics (National Library of Medicine) * Dentatorubral-pallidoluysian ...
About the test | National Screening Unit
Argininosuccinic aciduria (argininosuccinate lyase deficiency). *Citrullinaemia (argininosuccinate synthetase deficiency, ... Methylmalonic acidurias (mutase deficiency, CblA, CblB, CblC, CblD defects). *Propionic acidaemia (propionyl-CoA carboxylase ...
Newborn Screening Program Disorders | South Dakota Department of Health
Consortium Spotlight: Advancing Discoveries in Urea Cycle Disorders | Rare Diseases Clinical Research Network
International Classification of Diseases - Endocrine, Nutritional and Metabolic Diseases, and Immunity Disorders
Histidinemia Hyperhistidinemia Imidazole aminoaciduria 270.6 Disorders of urea cycle metabolism Argininosuccinic aciduria ... Glutaric aciduria type II (type IIA, IIB, IIC) Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD) Long chain/very ... Other specified disorders of carbohydrate transport and metabolism Essential benign pentosuria Fucosidosis Glycolic aciduria ... Citrullinemia Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine, and ammonia Hyperammonemia ...
Muralidhar H Premkumar, MBBS, DCH,DNB,MRCPCH, MS | BCM
EU/3/10/734 | European Medicines Agency
Amino Acid Metabolism
Argininosuccinic Aciduria (ASA). Argininosuccinic aciduria is a disorder where the enzyme argininosuccinate lyase is ... MedlinePlus Genetics, Argininosuccinic Aciduria, 1 Mar. 2020.. *Gerald Litwack, Chapter 13 - Metabolism of Amino Acids, Human ... and Argininosuccinic aciduria, where the enzyme argininosuccinate lyase is dysfunctional or missing. ...
An investigation of argininosuccinic acid anhydrides in argininosuccinic acid lyase deficiency by 1H-NMR spectroscopy<...
keywords = "Anhydrides of argininosuccinate, Argininosuccinic aciduria, Metabolic disorders, Nuclear magnetic resonance, Urea ... An investigation of argininosuccinic acid anhydrides in argininosuccinic acid lyase deficiency by 1H-NMR spectroscopy. Clinica ... An investigation of argininosuccinic acid anhydrides in argininosuccinic acid lyase deficiency by 1H-NMR spectroscopy. / Burns ... An investigation of argininosuccinic acid anhydrides in argininosuccinic acid lyase deficiency by 1H-NMR spectroscopy. ...
ICD-10-CM Code E72.20 - Disorder of urea cycle metabolism, unspecified
The ICD code E722 is used to code Argininosuccinic aciduria Argininosuccinic aciduria, also called argininosuccinic acidemia, ... Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life ... is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as ASA) in the blood and urine. ...
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Dermatologic Manifestations of Menkes Kinky Hair Disease Differential Diagnoses
North Dakota - Leukodystrophy Newborn Screening - Action Network
3-Methylglutaconic Aciduria. Argininemia. Argininosuccinic Aciduria. Benign Hyperphenylalaninemia. Beta-Ketothiolase Deficiency ... 3-Hydroxy-3-Methylglutaric Aciduria. 3-Methylcrotonyl-CoA Carboxylase Deficiency. Argininosuccinic Aciduria. Beta-Ketothiolase ... 3-Hydroxy-3-Methylglutaric Aciduria. 3-Methylcrotonyl-CoA Carboxylase Deficiency. ...
Genetic test kit - Linea Vita
Investigation of detoxification processes and biosynthesis of urea - TDMUV
Argininosuccinic aciduria. Argininosuccinate lyase (argininosuccinase). episodic symptoms similar to classic citrullinemia, ... Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia, is an ...
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QHerit® carrier screening
Argininosuccinic aciduria(ASL). Ataxia-telangiectasia(ATM). Autosomal recessive polycystic kidney disease(PKHD1). Bardet-Biedl ... Methylmalonic aciduria, MMAA-related(MMAA). Methylmalonic aciduria, MMAB-related(MMAB). Methylmalonic aciduria, MUT-related( ... Methylmalonic aciduria, MMAA-related(MMAA). Methylmalonic aciduria, MMAB-related(MMAB). Methylmalonic aciduria, MUT-related( ... Argininosuccinic aciduria(ASL). Ataxia-telangiectasia(ATM). Autosomal recessive polycystic kidney disease(PKHD1). Bardet-Biedl ...