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Disease Pyruvate Carboxylase Deficiency Disease

Name Pyruvate Carboxylase Deficiency Disease
Synonyms Ataxia with Lactic Acidosis 2 | Ataxia with Lactic Acidosis II | Ataxia with Lactic Acidosis, Type II | Deficiency Disease, Pyruvate Carboxylase | Deficiency, Pyruvate Carboxylase | Lactic Acidosis with Ataxia, Type II | LEIGH NECROTIZING ENCEPHALOPATHY DUE TO PYRUVATE CARBOXYLASE DEFICIENCY | LEIGH SYNDROME DUE TO PYRUVATE CARBOXYLASE DEFICIENCY | PC DEFICIENCY | Pyruvate Carboxylase Deficiency | Type II Ataxia with Lactic Acidosis
Definition 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)
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D015324
OMIM® ID 266150
External Links

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Pyruvate Carboxylase Deficiency Disease Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Pyruvate Carboxylase Deficiency Disease Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Pyruvate Metabolism, Inborn Errors Has associated chemicals Has associated genes Pyruvate Carboxylase Deficiency Disease Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Pyruvate Carboxylase Deficiency Disease Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Pyruvate Carboxylase Deficiency Disease Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Pyruvate Metabolism, Inborn Errors Has associated chemicals Has associated genes Pyruvate Carboxylase Deficiency Disease Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Mitochondrial Diseases Has associated chemicals Has associated genes Pyruvate Carboxylase Deficiency Disease Has associated chemicals Has associated genes

Top ↑ Descendants

Pyruvate Carboxylase Deficiency Disease Has associated chemicals Has associated genes
  Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency