2-Methylacetoacetyl CoA thiolase deficiency

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Bio-Agent Context: Research Results

Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Transferases: 6589
    - Acyltransferases: 374
      - Acetyl-CoA C-Acyltransferase: 27
        2-Methylacetoacetyl CoA thiolase deficiency: 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - 2-Methylacetoacetyl CoA thiolase deficiency: 2
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - 2-Methylacetoacetyl CoA thiolase deficiency: 2

Related Diseases

1.	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 11/12/1997 - "Six cases of mucopolysaccharidosis, four multiple carboxylase deficiency, three 2-methylacetoacetyl CoA thiolase deficiency, two methymalonic aciduria, one glutaric aciduria type I, one glutaric aciduria type II, one a-oxoglutaric aciduria, and one case of orotic aciduria were detected. "
2.	Multiple Carboxylase Deficiency (Deficiency, Multiple Carboxylase) 11/12/1997 - "Six cases of mucopolysaccharidosis, four multiple carboxylase deficiency, three 2-methylacetoacetyl CoA thiolase deficiency, two methymalonic aciduria, one glutaric aciduria type I, one glutaric aciduria type II, one a-oxoglutaric aciduria, and one case of orotic aciduria were detected. "
3.	Mucopolysaccharidoses 11/12/1997 - "Six cases of mucopolysaccharidosis, four multiple carboxylase deficiency, three 2-methylacetoacetyl CoA thiolase deficiency, two methymalonic aciduria, one glutaric aciduria type I, one glutaric aciduria type II, one a-oxoglutaric aciduria, and one case of orotic aciduria were detected. "
4.	Chromosome Aberrations (Chromosome Abnormalities) 10/01/1984 - "A case of 2-methylacetoacetyl CoA thiolase deficiency with coincidental chromosome abnormalities."
5.	Alpha-ketoglutarate dehydrogenase deficiency 11/12/1997 - "Six cases of mucopolysaccharidosis, four multiple carboxylase deficiency, three 2-methylacetoacetyl CoA thiolase deficiency, two methymalonic aciduria, one glutaric aciduria type I, one glutaric aciduria type II, one a-oxoglutaric aciduria, and one case of orotic aciduria were detected. "