Pyruvate Carboxylase Deficiency Disease

An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)

Also Known As:

Ataxia with Lactic Acidosis 2; Ataxia with Lactic Acidosis II; Deficiency Disease, Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency; Type II Ataxia with Lactic Acidosis; Deficiency, Pyruvate Carboxylase; Ataxia with Lactic Acidosis, Type II; Lactic Acidosis with Ataxia, Type II

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Pyruvate Carboxylase Deficiency Disease: 41
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Pyruvate Carboxylase Deficiency Disease: 41
    - Inborn Errors Carbohydrate Metabolism
      - Inborn Errors Pyruvate Metabolism
        Pyruvate Carboxylase Deficiency Disease: 41
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Mitochondrial Diseases: 21919
    - Pyruvate Carboxylase Deficiency Disease: 41
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Pyruvate Carboxylase Deficiency Disease: 41
    - Inborn Errors Carbohydrate Metabolism
      - Inborn Errors Pyruvate Metabolism
        Pyruvate Carboxylase Deficiency Disease: 41
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Pyruvate Carboxylase Deficiency Disease: 41

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Disease

Drug/Important Bio-Agent (IBA)