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.
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
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 Harvard Catalyst Profiles by year, and whether "Pyruvate Dehydrogenase Complex Deficiency Disease" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
Year | Major Topic | Minor Topic | Total |
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2001 | 1 | 0 | 1 |
2003 | 1 | 0 | 1 |
2009 | 1 | 0 | 1 |
2013 | 1 | 0 | 1 |
2018 | 1 | 0 | 1 |
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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Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):145-52.
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Optic neuropathy in a patient with pyruvate dehydrogenase deficiency. Pediatr Radiol. 2009 Oct; 39(10):1114-7.
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Development of subdural effusions in association with pyruvate dehydrogenase deficiency. Eur Radiol. 2005 Oct; 15(10):2205-7.
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In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency. AJNR Am J Neuroradiol. 2003 Aug; 24(7):1471-4.
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Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging. Prenat Diagn. 2001 Dec; 21(12):1053-6.