Home Page
Orphanet References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 22-02-2010
Symbol ASL
Location 7cen-q11.2
Name argininosuccinic aciduria
Other name(s) with neonatal distress and hyperammonemia
Corresponding gene ASL
Main clinical features
  • urea cycle disorders with the triad of hyperammonemia, encephalopathy, and respiratory alkalosis
  • an early-onset, or malignant, type with neonatal distress and hyperammonemia
  • a late-onset type
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Gene product
    Name argininosuccinate lyase (ASL)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function several predominant mutations : IVS5+1G-->A, c.532G-->A, c.346C-->T, c.1153C-->T
    Remark(s) treatment with protein restriction and l-arginine supplements leading to normal intellectual and psychomotor development (Ficioglu 2009)