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Argininosuccinic aciduria

ORPHA23
Synonym(s) Argininosuccinase deficiency
Prevalence 1-9 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • E72.2
OMIM
UMLS
  • C0268547
MeSH
  • D056807
MedDRA
  • 10058299

Summary

Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle. This leads to hyperammonemia and arginine deficiency. Onset occurs either soon after birth, with severe hyperammonemic coma that often proves to be fatal, or during childhood, with hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders. Significant hepatomegaly and trichorrhexix nodosa are common observations. Diagnosis is made by the existence of hyperammonemia and by chromatography of plasmatic and urinary organic acids that shows accumulation of arginosuccinic acid (ASA) and orotic aciduria. Patients are treated with a strict lifelong diet with very low amounts of protein intake, arginine supplementation, and sometimes sodium benzoate or sodium phenylbutyrate. Antenatal diagnosis can be performed either by direct measure of citrulline and ASA in amniotic fluid or by enzymatic assay

Expert reviewer(s)

  • Pr Jean-Marie SAUDUBRAY

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Detailed information

Emergency guidelines
  • EN (2012,pdf)
Clinical practice guidelines
  • EN (2012)
Article for general public
  • NL (2011,pdf)
  • ES (2011,pdf)
  • FR (2011,pdf)
  • IT (2011,pdf)
  • PT (2011,pdf)
  • DE (2011,pdf)
  • EN (2013)
Clinical genetics review
  • EN (2012)
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