Sulfite Oxidase Difciency
亞硫酸鹽氧化酵素缺乏 Sulfite Oxidase Difciency (Sulfocysteinuria) |
遺傳型式:體隱性
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原因: Methionine →S-adenosylmethionine & S-adeosylhomocysteine →homocysteine & Serine→Cysteine & Homoserine L-cysteine--→L-cysteine sulfinate--- →β-sulfinylpyruvate--- →pyruvate Sulfite--------------------------------------------------------------------------------------→sulfate Sulfite oxidase (catalyzed) Sulfite oxides gene mutation (SUOX; chr. 12) *arg-to-gln substitution at amnio acid 160 of liver sulfite oxidase
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症狀 : fatal neurological disease: acute infantile hemiplegia ectopia lentis; dislocation of lenses ↑sulfite in urine ↓sulfate excretion severe form: onset 11months milder form: late onset 5-7yr ataxic gait, generalized dystonia, choreoathetosis(choreoathetotic movement, language delay calcification of the basal ganglia and hypoplasia of the cerebellar vermis Laboratory test: ↑sulfite in urine, urinay thiosultate and S-sulfocysteine ↓sulfate excretion, sulfite urine strip test ( may give false-positive or false-negative result) low serum urate 治療 low sulfur amino acid diet (nature foods: daily methionine intake 130-150mg) & synthetic amino acid mixture without cystine and methionine (50g per day) |