OMIM = Online Medalian Inheritance of Men
  • amino acid mixture
  • low-protein diet
  • no specific treatment
rare (11 cases)
autosomal recessive
mutation in the sulfite oxidase gene
less severe late onset form described
Amino acids, urine
basal ganglia, changes, lesions, calcifications (MRI, CT)
chorea or athetosis
developmental delay
dislocated lens (ectopia lentis)
early death
feeding difficulties, poor feeding
hair, abnormal (thin, brittle, fine)
hypertonia, spasticity
mental retardation
microcephaly (<2 SD for age)
onset, neonatal
progressive neurologic defect
psychomotor retardation
skin rash, eczematous or seborrhoic
spastic diplegia/quadriplegia/tetraplegia
strokelike episodes
white matter changes, abnormalities
laboratory finding
S-Sulfocysteine30.00300.00 mmol/mol creatinineurine
Sulfite increasedurine
Thiosulfate 0.0055.00increasedurine
Sulfite oxidase 20.00 % of normalfibroblasts
Sulfate0.000.00 decreasedurineno data
Homocysteine decreasedplasma
Taurine1000.002000.00 mmol/mol creatinineurine
Cystine1.0010.00 mmol/mol creatinineurine
Xanthine70.00700.00 mmol/mol creatinineurine
MRI, brain, abnormalities -
S-Sulfocysteine increasedplasma
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