Alpha-Methylacetoacetic Aciduria (3KTD)

α-甲基乙酰乙酸尿症(来自ICD-11)

别称:

Beta-Ketothiolase Deficiency

3-Ketothiolase Deficiency

3-Oxothiolase Deficiency

T2 Deficiency

Mitochondrial Acetoacetyl-Coa Thiolase Deficiency

Mat Deficiency

Mitochondrial Acetoacetyl-Coenzyme a Thiolase Deficiency

Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency

Deficiency of Acetyl-Coa Acetyltransferase

2-Methyl-3-Hydroxybutyricacidemia

Alpha Methylacetoacetic Aciduria

Alpha-Methylacetoaceticaciduria

Pseudo-Zellweger Syndrome

Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated

2-Methylacetoacetyl-Coenzyme a Thiolase Deficiency

Hepatic Methionine Adenosyltransferase Deficiency

Methylacetoacetyl-Coenzyme a Thiolase Deficiency

Bifunctional Peroxisomal Enzyme Deficiency

Deficiency of Acetyl-Coa Acyltransferase

2-Methyl-3-Hydroxybutyric Acidemia

Aciduria, Alpha-Methylacetoacetic

Peroxisomal Thiolase Deficiency

3-Alpha-Oxothiolase Deficiency

Beta Ketothiolase Deficiency

Β-Ketothiolase Deficiency

3-Ktd Deficiency

3ktd

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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

α-甲基乙酰乙酸尿，又名β-酮硫醇酶缺乏症，与代谢性酸中毒和高蛋氨酸血症有关，症状包括婴儿期反复出现呕吐和呕吐的酮酸中毒发作。与α-甲基乙酰乙酸尿有关的重要基因是ACAT1（乙酰辅酶A乙酰转移酶1），其相关通路/超级通路包括代谢和SLITs和ROBOs表达的调节。附属组织包括大脑和骨髓，相关表型为呕吐和发热。

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