Dihydrolipoamide Dehydrogenase Deficiency (DLDD)

二氢硫辛酰胺脱氢酶缺乏(来自ICD-11)

别称:

Dld Deficiency

Pyruvate Dehydrogenase E3 Deficiency

E3 Deficiency

Lipoamide Dehydrogenase Deficiency

Lactic Acidosis Due to Lipoamide Dehydrogenase Deficiency

E3-Deficient Maple Syrup Urine Disease

Maple Syrup Urine Disease, Type Iii

Dldd

Lactic Acidosis, Congenital Infantile, Due to Lad Deficiency

Lipoamide Dehydrogenase Deficiency, Lactic Acidosis Due to

Nadh Cytochrome B5 Reductase Deficiency

Dihydrolipoyl Dehydrogenase Deficiency

Lactic Acidosis Due to Lad Deficiency

Maple Syrup Urine Disease Type Iii

Msud Type Iii

Msud Type 3

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

二氢脂酰胺脱氢酶缺乏症，也称为dld缺乏症，与枫糖尿病和丙酮酸脱氢酶e3结合蛋白缺乏症有关，症状包括共济失调、发绀和头痛。与二氢脂酰胺脱氢酶缺乏症有关的重要基因是DLD（二氢脂酰胺脱氢酶），其相关通路/超级通路包括亮氨酸、异亮氨酸和缬氨酸代谢以及2-酮戊酸降解。附属组织包括肝脏和心脏，相关表型包括呕吐和神经发育延迟。

查看原文参与反馈