Argininosuccinate lyase deficiency

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Mutations and Polymorphisms in the Human Argininosuccinate Lyase (ASL) Gene [PDF]

Human Mutation, 2014
Argininosuccinate lyase deficiency (ASLD) is caused by a defect of the urea cycle enzyme argininosuccinate lyase (ASL) encoded by the ASL gene. Patients often present early after birth with hyperammonemia but can also manifest outside the neonatal period
Lee-Jun C Wong, Amit V. Pandey, Johannes Häberle +2 more
exaly +3 more sources

High Cerebral Guanidinoacetate and Variable Creatine Concentrations in Argininosuccinate Synthetase and Lyase Deficiency: Implications for Treatment?

Molecular Genetics and Metabolism, 2006
Cerebral creatine and guanidinoacetate and blood and urine metabolites were studied in four patients with argininosuccinate synthetase (ASS) or argininosuccinate lyase (ASL) deficiency receiving large doses of arginine. Urine and blood metabolites varied
N M Verhoeven, D J Reijngoud, F J van Spronsen +2 more
exaly +2 more sources

Argininosuccinate Lyase Deficiency: Mutational Spectrum in Italian Patients and Identification of a Novel ASL Pseudogene

Human Mutation, 2007
Argininosuccinic aciduria (ASAuria) is an inborn error of metabolism caused by mutations in the argininosuccinate lyase (ASL) gene, which leads to the accumulation of argininosuccinic acid (ASA) in body fluids and severe hyperammonemia. A severe neonatal
Leonardo Salviati, Irene Toldo, Sabrina Sacconi +2 more
exaly +2 more sources

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urea cycle disorders
hyperammonemia
rare disease

inborn errors of metabolism

Free Radical Scavengers Prevent Argininosuccinic Acid-Induced Oxidative Stress in the Brain of Developing Rats: A New Adjuvant Therapy for Argininosuccinate Lyase Deficiency?

Molecular Neurobiology, 2020
Rafael Teixeira Ribeiro, Moacir Wajner, Guilhian Leipnitz +2 more
exaly

Cerebral 1H MR Spectroscopy Showing Elevation of Brain Guanidinoacetate in Argininosuccinate Lyase Deficiency

Molecular Genetics and Metabolism, 2006
Matthijs Oudkerk, F J van Spronsen, P E Sijens +2 more
exaly

Argininosuccinate Neurotoxicity and Prevention by Creatine in Argininosuccinate Lyase Deficiency: An in Vitro Study in Rat Three-Dimensional Organotypic Brain Cell Cultures

Journal of Inherited Metabolic Disease, 2019
Peter Vermathen +2 more
exaly

Use of Continuous Hemodiafiltration for the Treatment of a Neonate With Hyperammonemia Secondary to Argininosuccinate Lyase (ASAL) Deficiency

Indian Journal of Pediatrics, 2013
N Karthik Nagesh
exaly

Argininosuccinate Lyase Deficiency (ASL) and Carbohydrate-Deficient Transferrin (CDT): Experience With Four Independent CDT Analysis Methods — Misleading Results Given by the %CDT TIA Assay