adenylosuccinase deficiency
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Pathology
- accumulation of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) & adenylosuccinate (S-Ado) in body fluids
Genetics
- autosomal recessive
- associated with defects in ADSL
Clinical manifestations
- most children have marked psychomotor delay, often accompanied by epilepsy or autistic features, or both
- some children may be less profoundly effected
- occasionally, growth retardation & muscular wasting are also present
Laboratory
- adenylosuccinate in CSF
- adenylosuccinate in serum/plasma
- adenylosuccinate/creatinine in urine
- adenylosuccinate lyase in erythrocytes
- adenylosuccinate lyase in seru