3-methylcrotonyl CoA carboxylase 1 deficiency

A metabolic disorder caused by decreased activity of the 3-methylcrotonyl CoA carboxylase enzyme due to mutations in the MCCC1 gene. It is characterized primarily by progressive MUSCLE HYPOTONIA and atrophy, urinary extrection of 3-methylcrotonylglycine and of 3-hydroxyisovaleric acid, acute HYPERAMMONEMIA and KETOSIS. Affected infants may also experience a failure to thrive and feeding difficulties, seizures, developmental delay, and intellectual disability. Others may have no symptoms. OMIM: 210200

Also Known As:

3 Methylcrotonyl-CoA carboxylase deficiency; 3 Methylcrotonylglycinuria; 3 alpha methylcrotonylglycinuria 1; 3-Mcc Deficiency; 3-Methylcrotonyl-Coa Carboxylase Deficiency; 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency; 3-Methylcrotonylglycinuria; 3-Methylcrotonylglycinuria I; Bmcc Deficiency; Deficiency of Methylcrotonoyl-Coa Carboxylase; MCC1 Deficiency; MCCD Type 1; Mcc Deficiency; Methylcrotonyl-Coa Carboxylase Deficiency; Methylcrotonylglycinuria Type I; methylcrotonoyl-CoA carboxylase 1 deficiency

Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Ligases: 5553
    - Carbon-Carbon Ligases
      - 3-methylcrotonyl CoA carboxylase 1 deficiency: 48
Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Inborn Urea Cycle Disorders: 569
        3-methylcrotonyl CoA carboxylase 1 deficiency: 48
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Inborn Urea Cycle Disorders: 569
        3-methylcrotonyl CoA carboxylase 1 deficiency: 48
    - Inborn Errors Amino Acid Metabolism: 1
      - Inborn Urea Cycle Disorders: 569
        3-methylcrotonyl CoA carboxylase 1 deficiency: 48
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Inborn Urea Cycle Disorders: 569
        3-methylcrotonyl CoA carboxylase 1 deficiency: 48
    - Inborn Errors Amino Acid Metabolism: 1
      - Inborn Urea Cycle Disorders: 569
        3-methylcrotonyl CoA carboxylase 1 deficiency: 48
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Inborn Urea Cycle Disorders: 569
        3-methylcrotonyl CoA carboxylase 1 deficiency: 48

Carbon-Carbon Ligases

Bio-Agent Context: Research Results