疾病条目id

DI-00189

基因病名称(英)

Biotinidase deficiency

基因病名称

生物素酶缺乏症

关键字(英)

关键字

别名(英)

Late-onset MCD,Late-onset multiple carboxylase deficiency,MCD juvenile form,Multiple carboxylase deficiency, juvenile-onset,Multiple carboxylase deficiency, late-onset

别名

迟发性MCD,迟发性多种羧化酶缺乏症,MCD幼年型,多种羧化酶缺乏症,幼年型,多种羧化酶缺乏症,迟发性

统计

reviewed:1; annotated:0

交叉引用

253260,C0220754,C1854698,D028921

助记符

BTD deficiency

描述(英)

A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur.

描述

一种多羧化酶缺乏症的幼年型，一种生物素代谢的常染色体隐性遗传疾病，以酮症酸中毒、高氨血症、异常有机酸代谢物排泄和皮炎为特征。生物素酶缺乏症的特征是癫痫发作、肌张力减退、皮疹、脱发、共济失调、听力丧失和视神经萎缩。如果不治疗，症状通常会逐渐恶化，可能会出现昏迷和死亡。