Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Mental Retardation, X-Linked
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Mental Retardation, X-Linked
Nervous System Diseases
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Mental Retardation, X-Linked
...
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
...
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
Behavior and Behavior Mechanisms
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
...
Central Nervous System Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Nutritional and Metabolic Diseases
Metabolic Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Preferred term
Pyruvate Dehydrogenase Complex Deficiency Disease
Type
-
Topical Descriptor
Broader concept
Entry terms
- Ataxia, Intermittent, with Abnormal Pyruvate Metabolism
- Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency
- Deficiency, PDH
- Deficiency, PDHC
- Deficiency, Pyruvate Decarboxylase
- Deficiency, Pyruvate Dehydrogenase
- Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency
- PDHC Deficiency
- PDHC Deficiency Disease
- PDH Deficiency
- Pyruvate Decarboxylase Deficiency
- Pyruvate Dehydrogenase Complex Deficiency
- Pyruvate Dehydrogenase Deficiency
Scope note
- 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.
History note
- 2000(1989); use PYRUVATE METABOLISM, INBORN ERRORS 1989-1990
In other languages
-
Finnish
-
pyruvaattidehydrogenaasikompleksin puute
-
Swedish
URI
http://www.yso.fi/onto/mesh/D015325
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