請教一個罕見病症 Molybdenum cofactor deficiency

[用心伯]

前幾天有病患因這個病症留言給我
沒看到病人本人，但我想不是很簡單的症狀

不知各位先進有沒有特殊辦法，謝謝

[hsu]

http://www.genes-at-taiwan.com.tw/genehelp/database/Disease/Molybdenum_cofactor_def_960202.htm
自己參考一下
可能要請教小兒遺傳醫師比較懂

[melancholy]

A disorder of inborn error of metabolism

。Autosomal recessive disease involving defects in xanthine metabolism and sulfite degradation pathyways
。Including sulfite oxidase and molybdenum cofactor deficiency
。Acute or subacute evolution of severe neonatal-onset epileptic encephalopathy with diffuse severe cavitary leukomalacia
。Usually term baby with uneventful delivery and develop seizure in the first week
。Without associated malformative anomalies nor affecting other organ
。Progress with arrested development, acquired microcephaly and early diffuse hypertonicity
。Evolving to severe mixed motor and cognitive problem
。Most infants do not survive infancy
。Diagnosis by increased urine excretion of sulfites, thiosulfate, S-sulfocysteine and taurine
。Molybdenum cofactors deficiency may have low serum and urine uric acid with increased urine xanthine and hypoxanthine
。Confirm diagnosis by enzyme assay of liver biopsy or cultured skin fibroblasts
。Supportive treatment with optimal anticonvulsants
。Some have benefit as diet with cysteine and thiamine and restriction of methionine

剛好讀到這一章 ... IEM 好難喔 ... ... 希望有點幫助 ... 詳細可能還是要找小兒遺傳看看

[xkuk]

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