multiple acyl coenzyme a dehydrogenase deficiency

Preferred Label : multiple acyl coenzyme a dehydrogenase deficiency;

MeSH definition : An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1).;

MeSH synonym : ethylmalonic-adipic acidurias; ethylmalonic-adipic aciduria; electron transfer flavoprotein deficiency; aciduria, ethylmalonic-adipic; MADD (Multiple acyl CoA dehydrogenase deficiency); multiple Acyl-CoA dehydrogenase deficiency; ethylmalonic-adipicaciduria; ethylmalonic adipicaciduria; MADD (Multiple Acyl-CoA dehydrogenase deficiency); MADDs (Multiple Acyl-CoA dehydrogenase deficiency); glutaric aciduria type ii; acidurias, ethylmalonic-adipic; ethylmalonic adipic aciduria; multiple acyl CoA dehydrogenase deficiency; glutaric aciduria ii; glutaric aciduria type 2; glutaric acidemia type II; glutaric acidemia, type 2; glutaric aciduria, type 2; multiple FAD dehydrogenase deficiency;

MeSH hyponym : glutaric aciduria IIA; glutaric aciduria IIB; glutaric aciduria IIC; ETFDH Deficiency; ETFDH Deficiencies; Electron Transfer Flavoprotein Dehydrogenase Deficiency; ETFA Deficiency; ETFA Deficiencies; Electron Transfer Flavoprotein Alpha Subunit Deficiency; Electron Transfer Flavoprotein Beta Subunit Deficiency; ETFB Deficiency; ETFB Deficiencies;

Wikipedia link : https://en.wikipedia.org/wiki/Ethylmalonic adipic aciduria;

Details

Origin ID

D054069;

UMLS CUI

C0268596;

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]
Automatic exact mappings (from CISMeF team)
- Glutaric acidemia I [OMIM Phenotype]
- Glutaric aciduria [HPO term]
- Glutaric aciduria (disorder) [SNOMED CT concept]
- Glutaric aciduria III [OMIM Phenotype]
- Glutaric aciduria type I [PASCAL descriptor]
- electron transfer flavoprotein subunit alpha [ORDO Gene]
- electron transfer flavoprotein subunit alpha [HGNC gene]
- glutaric aciduria, nos [SNOMED Notion]
- multiple acyl-CoA dehydrogenase deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Glutaric Acidemia Type 2 [NCIt concept]
- Glutaric acidemia type 2 [LOINC component]
- Glutaric aciduria, type 2 (disorder) [SNOMED CT concept]
- Multiple Acyl-CoA Dehydrogenase Deficiency [NCIt concept]
- Multiple acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Multiple acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Multiple acyl-coa dehydrogenase deficiency [OMIM Phenotype]
- glutaric aciduria type 2 [Disease (Nov.)]
- glutaric aciduria, type 2 [SNOMED Notion]
- multiple acyl-CoA dehydrogenase deficiency [DO Concept]
DO Cross reference
- multiple acyl-CoA dehydrogenase deficiency [DO Concept]
Manual NTBT mappings (CISMeF)
- Disorder of fatty acid oxidation and ketone body metabolism [ORDO Disease]
- Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy [ORDO Disease]
- Muscular lipidosis [ORDO Disease]
Record concept(s)
- glutaric aciduria IIA [MeSH concept]
- glutaric aciduria IIB [MeSH concept]
- glutaric aciduria IIC [MeSH concept]
- multiple acyl coenzyme A dehydrogenase deficiency [MeSH concept]
Related MeSH Supplementary Concept(s)
- glutaric aciduria 2 [MeSH Supplementary Concept]
See also inter- (CISMeF)
- ethylmalonic aciduria [CISMeF Querying Strategy]
- glutaric aciduria type 2 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glutaric Acidemia Type 2 [NCIt concept]
- Glutaric acidemia type 2 [LOINC component]
- Glutaric aciduria, type 2 (disorder) [SNOMED CT concept]
- Multiple Acyl-CoA Dehydrogenase Deficiency [NCIt concept]
- Multiple acyl-coa dehydrogenase deficiency [OMIM Phenotype]
- glutaric aciduria, type 2 [SNOMED Notion]
- multiple acyl-CoA dehydrogenase deficiency [DO Concept]
Validated automatic mappings to BTNT
- Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency [ICD-11 More detail]

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