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Adenylosuccinate lyase deficiency

ORPHA46
Synonym(s) ADSL deficiency
Adenylosuccinase deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • E79.8
OMIM
UMLS
  • C0268126
MeSH
  • C538235
MedDRA -

Summary

Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited condition. Adenylosuccinate lyase catalyses the synthesis of purines in two successive steps: the transformation of succinyl aminoimidazole carboxamide ribotide (SAICAR) and the conversion of adenylosuccinate into AMP. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy. Diagnosis is made by evidencing SAICAR in plasma, urine, and CSF with a specific technique, and confirmed by high pressure liquid chromatography. Enzymatic deficiency can be demonstrated in leucocytes and fibroblasts. No effective therapy is available. Antenatal diagnosis is feasible

Expert reviewer(s)

  • Pr Jean-Marie SAUDUBRAY

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Detailed information

Clinical genetics review
  • EN (2010)
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