multiple acyl-CoA dehydrogenase deficiency
Information
- Disease name
- multiple acyl-CoA dehydrogenase deficiency
- Disease ID
- DOID:0060358
- Description
- "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: 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." [url:http\://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii, url:https\://en.wikipedia.org/wiki/Glutaric_acidemia_type_2, url:https\://www.ncbi.nlm.nih.gov/pubmed/12815589, url:https\://www.ncbi.nlm.nih.gov/pubmed/22580358]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02635269 | Unknown status | N/A | Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy | January 2016 | December 2020 |
- Disase is a (Disease Ontology)
- DOID:655
- Cross Reference ID (Disease Ontology)
- ICD10CM:E71.313
- Cross Reference ID (Disease Ontology)
- MESH:D054069
- Cross Reference ID (Disease Ontology)
- MIM:231680
- Cross Reference ID (Disease Ontology)
- NCI:C84907
- Cross Reference ID (Disease Ontology)
- ORDO:26791
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:22886006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0268596
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1856401
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1856403
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1856405
- Exact Synonym (Disease Ontology)
- electron transfer flavoprotein deficiency
- Exact Synonym (Disease Ontology)
- electron transfer flavoprotein ubiquinone oxidoreductase deficiency
- Exact Synonym (Disease Ontology)
- glutaric acidemia type 2
- Exact Synonym (Disease Ontology)
- glutaric aciduria type 2
- Exact Synonym (Disease Ontology)
- MAD deficiency
- Exact Synonym (Disease Ontology)
- MADD
- OrphaNumber from OrphaNet (Orphanet)
- 26791