Multiple acyl-coa dehydrogenase deficiency

Preferred Label : Multiple acyl-coa dehydrogenase deficiency;

Symbol : MADD;

CISMeF acronym : EMA; GA II; GA2A; GA2B; GA2C; GA2; MADD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glutaric acidemia II; Glutaric aciduria II; Ga II; Ethylmalonic-adipicaciduria; GA2; EMA;

Included titles and symbols : Glutaric acidemia iia; Glutaric acidemia iib; Glutaric acidemia iic; Etfb deficiency; Etfdh deficiency; Etfa deficiency; GA2A; GA2B; GA2C;

Description : Glutaric aciduria II (GA II) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (231670) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003). The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001). Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).;

Inheritance : Autosomal recessive;

Prefixed ID : #231680;

Details

Origin ID

231680;

UMLS CUI

C0268596;

Automatic exact mappings (from CISMeF team)
- ETFA wt Allele [NCIt concept]
- Ecological Momentary Assessment [NCIt concept]
- European Medicines Agency [NCIt concept]
- MAP kinase activating death domain [HGNC gene]
- MUC1 wt Allele [NCIt concept]
- Mixed anxiety and depressive disorder (disorder) [SNOMED CT concept]
- Mucin-1 [NCIt concept]
- X-linked glutaric aciduria, type 2 (disorder) [SNOMED CT concept]
- electron transfer flavoprotein subunit alpha [ORDO Gene]
- electron transfer flavoprotein subunit alpha [HGNC gene]
- multiple acyl-CoA dehydrogenase deficiency [Artificial nutrition thesaurus concept]
- status asthmaticus [MeSH Descriptor]
Currated CISMeF NLP mapping
- Glutaric Acidemia Type 2 [NCIt concept]
- Glutaric aciduria 2 [MeSH concept]
- 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]
- glutaric aciduria 2 [MeSH Supplementary Concept]
- glutaric aciduria type 2 [Disease (Nov.)]
- glutaric aciduria, type 2 [SNOMED Notion]
- multiple acyl coenzyme A dehydrogenase deficiency [MeSH concept]
- multiple acyl coenzyme a dehydrogenase deficiency [MeSH Descriptor]
- multiple acyl-CoA dehydrogenase deficiency [DO Concept]
DO Cross reference
- multiple acyl-CoA dehydrogenase deficiency [DO Concept]
False automatic mappings
- MADD Gene [NCIt concept]
- MAP Kinase-Activating Death Domain Protein [NCIt concept]
- monoacetyldapsone [MeSH concept]
- monoacetyldapsone [MeSH Supplementary Concept]
Genes related to phenotype
- Electron transfer flavoprotein dehydrogenase [OMIM gene]
- Electron transfer flavoprotein, alpha polypeptide [OMIM gene]
- Electron transfer flavoprotein, beta polypeptide [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of the genital system [HPO term]
- Abnormality of the pinna [HPO term]
- Acidosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental cataract [HPO term]
- Electron transfer flavoprotein-ubiquinone oxidoreductase defect [HPO term]
- Elevated circulating glutaric acid concentration [HPO term]
- Ethylmalonic aciduria [HPO term]
- Flattened nasal bridge [HPO term]
- Generalized aminoaciduria [HPO term]
- Gliosis [HPO term]
- Glutaric aciduria [HPO term]
- Glycosuria [HPO term]
- Hepatic periportal necrosis [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- High forehead [HPO term]
- Hypoglycemia [HPO term]
- Hypoglycemic coma [HPO term]
- Hypotonia [HPO term]
- Jaundice [HPO term]
- Macrocephaly [HPO term]
- Muscle weakness [HPO term]
- Nausea [HPO term]
- Neonatal death [HPO term]
- Neonatal death frequent [HPO term]
- Pachygyria [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Proximal tubulopathy [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal cortical cysts [HPO term]
- Respiratory distress [HPO term]
- Selective proximal tubular damage [HPO term]
- Telecanthus [HPO term]
- Vomiting [HPO term]
- Wide anterior fontanel [HPO term]
- obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA [HPO term]
ORDO concept(s)
- Multiple acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Multiple acyl-CoA dehydrogenase deficiency, mild type [ORDO Disease]
- Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type [ORDO Disease]
See also inter- (CISMeF)
- 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-coenzyme A dehydrogenase deficiency [MedDRA Preferred Term]
- glutaric aciduria, type 2 [SNOMED Notion]
- multiple acyl coenzyme A dehydrogenase deficiency [MeSH concept]
- multiple acyl coenzyme a dehydrogenase deficiency [MeSH Descriptor]
- multiple acyl-CoA dehydrogenase deficiency [DO Concept]

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