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last update : 26-06-2009
Symbol CTLN1
Location 9q34.13
Name citrullinemia, type I
Other name(s) citrullinemia, classic
Corresponding gene ASS1
Other symbol(s) ASS
Main clinical features
  • neonatal distress and hyperammonemia, hyperoroticaciduria and a fatal outcome in most cases
  • various clinical manifestations encompassing severely affected patients with fatal neonatal hyperammonemia as well as asymptomatic individuals with only a biochemical phenotype
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Gene product
    Name argininosuccinate synthetase (ASS)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function various
    Genotype/Phenotype correlations G390R in exon 15 is the single most common mutation in patients with the classical phenotype (Engel 2009)