Sulphite oxidase deficiency--a report of two siblings.
Isolated sulphite oxidase deficiency is a rare metabolic disorder characterised by neurological abnormalities, lens subluxation and seizures. Inheritance is autosomal recessive. We report two siblings with onset of clinical symptoms at 6 months of age, progressing to severe mental retardation, spasticity and seizures which were difficult to control. One of the siblings had lens subluxation. Diagnosis is made upon the increased levels of urinary sulphite, and high plasma S-sulphocysteine and thiosulphate levels. No treatment is known to be of help. Prenatal diagnosis is possible from the analysis of uncultured chorionic villus material for sulphite oxidase.
Goh
A
A
Department of Paediatrics, Tan Tock Seng Hospital, Singapore.
Lim
K W
KW
D003677:Deficiency Diseases / Q000235:genetics / Q000628:therapy; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency* / Q000378:metabolism
D050862:Oxidoreductases Acting on Sulfur Group Donors