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中文3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency (HMGCLD)
Alias:
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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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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