Hsd10 Mitochondrial Disease (HSD10MD)

HSD10线粒体疾病(来自ICD-11)

别称:

2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency

Mhbd Deficiency

2-Methyl-3-Hydroxybutyric Aciduria

Hsd10 Deficiency

Hsd10 Disease

17-Beta-Hydroxysteroid Dehydrogenase X Deficiency

3-Hydroxyacyl-Coa Dehydrogenase Ii Deficiency

Hsd17b10 Deficiency

Hsd10md

Mrxs10

Camr

2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Infantile Type

2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Neonatal Type

2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Classic Type

Choreoathetosis with Mental Retardation and Abnormal Behavior

Mental Retardation with Choreoathetosis and Abnormal Behavior

3-Hydroxy-2-Methylbutyryl-Coa Dehydrogenase Deficiency

17β-Hydroxysteroid Dehydrogenase Type 10 Deficiency

2-Methyl-3-Hydroxybutyric Aciduria, Infantile Type

3-Hydroxyacyl-Coa Dehydrogenase Type Ii Deficiency

2-Methyl-3-Hydroxybutyric Aciduria, Neonatal Type

3-Hydroxyacyl-Coa Dehydrogenase Type 2 Deficiency

3-Hydroxyacyl-Coa Dehydrogenase Type-2 Deficiency

Hydroxyacyl-Coa Dehydrogenase, Type 2, Deficiency

2-Methyl-3-Hydroxybutyric Aciduria, Classic Type

Hydroxyacyl-Coa Dehydrogenase Ii Deficiency

Mental Retardation, X-Linked, Syndromic 10

Hsd10 Deficiency, Infantile Type

Mhbd Deficiency, Infantile Type

Hsd10 Deficiency, Neonatal Type

Hsd10 Deficiency, Classic Type

Mhbd Deficiency, Neonatal Type

Hsd10 Disease, Infantile Type

Mhbd Deficiency, Classic Type

Hsd10 Disease, Neonatal Type

Hsd10 Disease, Classic Type

3h2mbd Deficiency

Hsd10 Mi Disease

2m3hba

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Hsd10线粒体疾病，又称2-甲基-3-羟基丁酰辅酶A脱氢酶缺乏症，与X连锁智力障碍型10和2-甲基丁酰辅酶A脱氢酶缺乏症有关，症状包括肌肉痉挛、癫痫发作和焦虑。与Hsd10线粒体疾病有关的重要基因是HSD17B10（17-β-羟类固醇脱氢酶10）。在该疾病的背景下，已经提到了硼替佐米和利妥昔单抗这两种药物。相关组织包括心脏和骨髓，相关表型为癫痫发作和全球发育延迟。

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