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Nutritional and Metabolic Diseases > Metabolic Diseases > Mitochondrial Diseases > Pyruvate Dehydrogenase Complex Deficiency Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Pyruvate Dehydrogenase Complex Deficiency Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Pyruvate Dehydrogenase Complex Deficiency Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Pyruvate Dehydrogenase Complex Deficiency Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Pyruvate Dehydrogenase Complex Deficiency Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Mental Retardation, X-Linked > Pyruvate Dehydrogenase Complex Deficiency Disease
... > Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Pyruvate Dehydrogenase Complex Deficiency Disease
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Pyruvate Dehydrogenase Complex Deficiency Disease
Behavior and Behavior Mechanisms > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Pyruvate Dehydrogenase Complex Deficiency Disease
Mental Disorders > Neurodevelopmental Disorders > Intellectual Disability > Mental Retardation, X-Linked > Pyruvate Dehydrogenase Complex Deficiency Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Pyruvate Dehydrogenase Complex Deficiency Disease
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Pyruvate Dehydrogenase Complex Deficiency Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Pyruvate Metabolism, Inborn Errors > Pyruvate Dehydrogenase Complex Deficiency Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Pyruvate Metabolism, Inborn Errors > Pyruvate Dehydrogenase Complex Deficiency Disease

Terme préférentiel

Pyruvate Dehydrogenase Complex Deficiency Disease  

Type

  • mesh:Descriptor

Définition

  • An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.

Concept générique

Concepts associés

Synonyme(s)

  • Ataxia, Intermittent, with Abnormal Pyruvate Metabolism
  • Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency
  • Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency
  • PDHC Deficiency
  • PDHC Deficiency Disease
  • PDH Deficiency
  • Pyruvate Decarboxylase Deficiency
  • Pyruvate Dehydrogenase Complex Deficiency
  • Pyruvate Dehydrogenase Deficiency

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-F5N903NW-F

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RDF/XML TURTLE JSON-LD Date de création 01/06/1988, dernière modification le 01/07/2018