跳到主要內容區塊
:::遺傳諮詢中心 > 衛教專區 > 認識疾病 > 中英對照

Sulfite Oxidase Difciency

引用 (0)
轉寄
最後更新時間:2018/11/5 15:10:13
點閱:394

亞硫酸鹽氧化酵素缺乏

Sulfite Oxidase Difciency

(Sulfocysteinuria) 

傳型式:體隱性

 

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

 

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)