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Nutritional and Metabolic Diseases > Metabolic Diseases > Mitochondrial Diseases > Pyruvate Carboxylase Deficiency Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Pyruvate Carboxylase Deficiency Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Pyruvate Carboxylase Deficiency Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Pyruvate Carboxylase Deficiency Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Pyruvate Carboxylase Deficiency Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Pyruvate Metabolism, Inborn Errors > Pyruvate Carboxylase Deficiency Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Pyruvate Metabolism, Inborn Errors > Pyruvate Carboxylase Deficiency Disease

Terme préférentiel

Pyruvate Carboxylase Deficiency Disease  

Type

  • mesh:Descriptor

Définition

  • 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)

Concept générique

Concepts associés

Synonyme(s)

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

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-V3KSTZBF-Q

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RDF/XML TURTLE JSON-LD Date de création 01/06/1988, dernière modification le 08/07/2013