Alpha-Methylacetoacetic Aciduria (3KTD)

Alias:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Alpha-Methylacetoacetic Aciduria, also known as beta-ketothiolase deficiency, is related to metabolic acidosis and hypermethioninemia, and has symptoms including recurrent ketoacidotic attacks in infancy marked by vomitting and vomiting. An important gene associated with Alpha-Methylacetoacetic Aciduria is ACAT1 (Acetyl-CoA Acetyltransferase 1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include brain and bone marrow, and related phenotypes are vomiting and fever

Related ID：

MALACARDS：ALP077

OMIM：203750

MESH：C535818