Acyl-coa dehydrogenase, medium-chain, deficiency of

Preferred Label : Acyl-coa dehydrogenase, medium-chain, deficiency of;

Symbol : ACADMD;

CISMeF acronym : ACADMD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mcad deficiency; Acadm deficiency; Mcadh deficiency; Carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency;

Description : Inherited deficiency of medium-chain acyl-CoA dehydrogenase is characterized by intolerance to prolonged fasting, recurrent episodes of hypoglycemic coma with medium-chain dicarboxylic aciduria, impaired ketogenesis, and low plasma and tissue carnitine levels. The disorder may be severe, and even fatal, in young patients (Matsubara et al., 1986).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene (ACADM, 607008.0001);

Laboratory abnormalities : Mildly elevated blood ammonia; Increased liver enzymes; Medium chain dicarboxylic aciduria; Decreased plasma carnitine; Acylglycinuria; Deficiency of medium-chain acyl-CoA dehydrogenase;

Prefixed ID : #201450;

Details

Origin ID

201450;

UMLS CUI

C0220710;

Currated CISMeF NLP mapping
- Medium chain acyl CoA dehydrogenase deficiency [MeSH concept]
- Medium chain acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Medium chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency [NCIt concept]
- Medium-chain acyl-coenzyme A dehydrogenase deficiency [MedDRA Preferred Term]
- Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Reye's syndrome (disorder) [SNOMED CT concept]
- medium chain acyl CoA dehydrogenase deficiency [MeSH Supplementary Concept]
- medium chain acyl-CoA dehydrogenase deficiency [DO Concept]
DO Cross reference
- medium chain acyl-CoA dehydrogenase deficiency [DO Concept]
Genes related to phenotype
- Acyl-coa dehydrogenase, medium-chain [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral edema [HPO term]
- Coma [HPO term]
- Decreased plasma carnitine [HPO term]
- Elevated hepatic transaminase [HPO term]
- Elevated liver enzymes [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperglycinuria [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Lethargy [HPO term]
- Medium chain dicarboxylic aciduria [HPO term]
- Metabolic acidosis [HPO term]
- Seizure [HPO term]
- Vomiting [HPO term]
- mild metabolic acidosis [HPO term]
ORDO concept(s)
- Medium chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MCAD [LOINC component]
- Medium chain acyl CoA dehydrogenase deficiency [MeSH concept]
- Medium chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency [NCIt concept]
- Medium-chain acyl-coenzyme A dehydrogenase deficiency [MedDRA Preferred Term]
- Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- medium chain acyl CoA dehydrogenase deficiency [MeSH Supplementary Concept]
- medium chain acyl-CoA dehydrogenase deficiency [DO Concept]

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