Pyruvate Dehydrogenase Complex Deficiency Disease
"Pyruvate Dehydrogenase Complex Deficiency Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
Descriptor ID |
D015325
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MeSH Number(s) |
C10.228.140.163.100.750 C10.597.606.643.455.875 C16.320.322.500.875 C16.320.400.525.875 C16.320.565.189.750 C16.320.565.202.810.766 C18.452.132.100.750 C18.452.648.189.750 C18.452.648.202.810.766 C18.452.660.710
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Concept/Terms |
Pyruvate Dehydrogenase Complex Deficiency Disease- Pyruvate Dehydrogenase Complex Deficiency Disease
- Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency
- Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency
- PDH Deficiency
- Deficiency, PDH
- PDHC Deficiency Disease
- Pyruvate Decarboxylase Deficiency
- Deficiency, Pyruvate Decarboxylase
- Pyruvate Dehydrogenase Complex Deficiency
- Pyruvate Dehydrogenase Deficiency
- Deficiency, Pyruvate Dehydrogenase
- Ataxia, Intermittent, with Abnormal Pyruvate Metabolism
- PDHC Deficiency
- Deficiency, PDHC
Ataxia with Lactic Acidosis, Type I- Ataxia with Lactic Acidosis, Type I
- Type I Ataxia with Lactic Acidosis
- Lactic Acidosis with Ataxia, Type I
- Ataxia with Lactic Acidosis
- Ataxia with Lactic Acidosis I
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Below are MeSH descriptors whose meaning is more general than "Pyruvate Dehydrogenase Complex Deficiency Disease".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Pyruvate Dehydrogenase Complex Deficiency Disease [C10.228.140.163.100.750]
- Neurologic Manifestations [C10.597]
- Neurobehavioral Manifestations [C10.597.606]
- Intellectual Disability [C10.597.606.643]
- Mental Retardation, X-Linked [C10.597.606.643.455]
- Pyruvate Dehydrogenase Complex Deficiency Disease [C10.597.606.643.455.875]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Genetic Diseases, X-Linked [C16.320.322]
- Mental Retardation, X-Linked [C16.320.322.500]
- Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.322.500.875]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Mental Retardation, X-Linked [C16.320.400.525]
- Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.400.525.875]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.565.189.750]
- Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
- Pyruvate Metabolism, Inborn Errors [C16.320.565.202.810]
- Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.565.202.810.766]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Pyruvate Dehydrogenase Complex Deficiency Disease [C18.452.132.100.750]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Pyruvate Dehydrogenase Complex Deficiency Disease [C18.452.648.189.750]
- Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
- Pyruvate Metabolism, Inborn Errors [C18.452.648.202.810]
- Pyruvate Dehydrogenase Complex Deficiency Disease [C18.452.648.202.810.766]
- Mitochondrial Diseases [C18.452.660]
- Pyruvate Dehydrogenase Complex Deficiency Disease [C18.452.660.710]
Below are MeSH descriptors whose meaning is more specific than "Pyruvate Dehydrogenase Complex Deficiency Disease".
This graph shows the total number of publications written about "Pyruvate Dehydrogenase Complex Deficiency Disease" by people in this website by year, and whether "Pyruvate Dehydrogenase Complex Deficiency Disease" was a major or minor topic of these publications.
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Below are the most recent publications written about "Pyruvate Dehydrogenase Complex Deficiency Disease" by people in Profiles.
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LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. Am J Med Genet A. 2018 05; 176(5):1184-1189.
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Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency. Mol Genet Metab. 2010 Jul; 100(3):296-9.
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Fatal combined defects in mitochondrial multienzyme complexes in two siblings. Eur J Pediatr. 1992 May; 151(5):347-52.
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MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect. AJR Am J Roentgenol. 1990 Jun; 154(6):1269-74.
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MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect. AJNR Am J Neuroradiol. 1990 Mar-Apr; 11(2):379-84.
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Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (Leigh disease). Ann Neurol. 1979 Dec; 6(6):483-94.