3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency (HMGCLD)

3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏(来自ICD-11)

别称:

Hydroxymethylglutaric Aciduria

Hmg-Coa Lyase Deficiency

Deficiency of Hydroxymethylglutaryl-Coa Lyase

3-Hydroxy-3-Methylglutaric Aciduria

Hmgcl Deficiency

Hl Deficiency

Hmgcld

3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency

3-Hydroxy 3-Methyl Glutaryl-Coa Lyase Deficiency

3-Oh 3-Methyl Glutaric Aciduria

Hydroxymethylglutaricaciduria

3-Oh 3-Ch3 Glutaric Aciduria

Hepatic Lipase Deficiency

Hmg Coa Lyase Deficiency

3hmg

Hmg

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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

3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症，也称为羟甲基戊二酸尿症，与3-羟基-3-甲基戊二酰辅酶A合成酶-2缺乏症和3-羟基-3-甲基戊二酰辅酶A合成酶缺乏症有关，症状包括心绞痛。与3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症相关的重要基因是HMGCL（3-羟基-3-甲基戊二酰辅酶A裂解酶）。相关组织包括肝脏和皮质，相关表型为高氨血症和代谢性酸中毒。

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