pyruvate dehydrogenase complex deficiency disease

Preferred Label : pyruvate dehydrogenase complex deficiency disease;

MeSH definition : 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 synonym : pdhc deficiency disease; ataxia, intermittent, with abnormal pyruvate metabolism; ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency; PDH deficiency; deficiency, PDH; pyruvate decarboxylase deficiency; deficiency, pyruvate decarboxylase; pyruvate dehydrogenase complex deficiency; pyruvate dehydrogenase deficiency; deficiency, pyruvate dehydrogenase; intermittent ataxia with pyruvate dehydrogenase deficiency; PDHC deficiency; deficiency, PDHC;

CISMeF synonym : decarboxylase deficiencies, pyruvate; decarboxylase deficiency, pyruvate; deficiencies, PDH; deficiencies, pyruvate decarboxylase; deficiencies, pyruvate dehydrogenase; deficiency disease, pdhc; deficiency diseases, pdhc; dehydrogenase deficiencies, pyruvate; dehydrogenase deficiency, pyruvate; PDH deficiencies; pdhc deficiency diseases; pyruvate decarboxylase deficiencies; pyruvate dehydrogenase deficiencies;

MeSH hyponym : juvenile pyruvate dehydrogenase complex deficiency disease; pyruvate dehydrogenase complex deficiency disease, neonatal; ataxia with lactic acidosis, type I; Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease; Ataxia with Lactic Acidosis; Type I Ataxia with Lactic Acidosis; Lactic Acidosis with Ataxia, Type I; Ataxia with Lactic Acidosis I; Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile;

MeSH annotation : DF: PDHC DEFIC DIS;

Wikipedia link : https://en.wikipedia.org/wiki/Pyruvate dehydrogenase complex deficiency disease;

Details

Origin ID

D015325;

UMLS CUI

C0034345;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Decreased activity of the pyruvate dehydrogenase complex [HPO term]
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category]
- Pyruvate Dehydrogenase Deficiency [NCIt concept]
- Pyruvate dehydrogenase E1-alpha deficiency [ORDO Disease]
- Pyruvate dehydrogenase complex deficiency [ICD-11 Sub-sub category]
- Pyruvate dehydrogenase complex deficiency [MedDRA Preferred Term]
- Pyruvate dehydrogenase complex deficiency [OMIM phenotypic series]
- Pyruvate dehydrogenase complex deficiency (disorder) [SNOMED CT concept]
- Pyruvate dehydrogenase deficiency [ORDO Disease]
- Pyruvate dehydrogenase e1-alpha deficiency [OMIM Phenotype]
- pyruvate dehydrogenase complex deficiency [SNOMED Notion]
DO Cross reference
- pyruvate decarboxylase deficiency [DO Concept]
Manual BTNT mappings - CISMeF
- Pyruvate dehydrogenase E2 deficiency [ORDO Disease]
- Pyruvate dehydrogenase phosphatase deficiency [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Syndromic neurometabolic disease with X-linked intellectual disability [ORDO Disease]
MeSH Descriptor(s) used for indexing
- pyruvate dehydrogenase complex [MeSH Descriptor]
ORDO relation(s)
- Pyruvate dehydrogenase deficiency [ORDO Disease]
Record concept(s)
- ataxia with lactic acidosis, type I [MeSH concept]
- juvenile pyruvate dehydrogenase complex deficiency disease [MeSH concept]
- pyruvate dehydrogenase complex deficiency disease [MeSH concept]
- pyruvate dehydrogenase complex deficiency disease, neonatal [MeSH concept]
Related MeSH Supplementary Concept(s)
- pyruvate dehydrogenase E1-Beta deficiency [MeSH Supplementary Concept]
- pyruvate dehydrogenase E2 deficiency [MeSH Supplementary Concept]
- pyruvate dehydrogenase E3-Binding protein deficiency [MeSH Supplementary Concept]
See also
- leigh disease [MeSH Descriptor]
- pyruvate dehydrogenase complex [MeSH Descriptor]
See also inter- (CISMeF)
- Deficiency of pyruvate decarboxylase (disorder) [SNOMED CT concept]
- Pyruvate carboxylase deficiency [OMIM Phenotype]
- Pyruvate carboxylase deficiency [ICD-11 Sub-sub category]
- pyruvate decarboxylase deficiency [DO Concept]
- pyruvate decarboxylase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of pyruvate decarboxylase (disorder) [SNOMED CT concept]
- Pyruvate Dehydrogenase Deficiency [NCIt concept]
- Pyruvate dehydrogenase E1-alpha deficiency [ORDO Disease]
- Pyruvate dehydrogenase complex deficiency [MedDRA Preferred Term]
- Pyruvate dehydrogenase complex deficiency (disorder) [SNOMED CT concept]
- Pyruvate dehydrogenase deficiency [ORDO Disease]
- pyruvate decarboxylase deficiency [DO Concept]
- pyruvate decarboxylase deficiency [Disease (Nov.)]
- pyruvate dehydrogenase complex deficiency [SNOMED Notion]
Validated automatic mappings to BTNT
- Pyruvate dehydrogenase complex E1-alpha subunit deficiency [ICD-11 More detail]
- Pyruvate dehydrogenase complex E1-alpha subunit deficiency (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category (who)]

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