OMIM = Online Medalian Inheritance of Men
  • adenine
  • allopurinol
  • D-ribose
rare (<1:1000000)
autosomal recessive
homozygous or compound heterozygous mutation in the ADSL gene
behavior, autism or autistic-like
cerebral atrophy
growth retardation
hypertonia, spasticity
low set ears
mental retardation
onset, infant
onset, newborn
spastic diplegia/quadriplegia
laboratory finding
Adenylosuccinase 100.00decreased activityliver
Adenylosuccinase 100.00decreased activitykidney
Succinylamino-imidazole carboxamide riboside0.000.00 increasedurineno data
Succinylamino-imidazole carboxamide riboside increasedplasma
Succinylamino-imidazole carboxamide riboside increasedspinal fluid
Succinyladenosine increasedspinal fluid
Succinyladenosine increasedplasma
Succinyladenosine increasedurine
CT, brain, abnormalities -
MRI, brain, abnormalities -
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