ZFIN Human Disease: multiple acyl-CoA dehydrogenase deficiency

OBO ID: DOID:0060358

Term Name:	multiple acyl-CoA dehydrogenase deficiency		Search Ontology:
Synonyms:	electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2 MAD deficiency MADD
Definition:	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. (4)
References:	ICD10CM:E71.313 MESH:D054069 NCI:C84907 OMIM:231680 ORDO:26791 SNOMEDCT_US_2023_03_01:22886006 UMLS_CUI:C0268596 UMLS_CUI:C1856401 UMLS_CUI:C1856403 UMLS_CUI:C1856405
Ontology:	Human Disease ( DOID:0060358 )

Relationships

is a type of:	inherited metabolic disorder inherited metabolic disorder Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ETFA	etfa	Glutaric acidemia IIA	231680
ETFB	etfb	Glutaric acidemia IIB	231680
ETFDH	etfdh	Glutaric acidemia IIC	231680

ZEBRAFISH MODELS

Fish	Conditions	Citations
etfa^vu463/vu463	standard conditions	Kim et al., 2013
etfdh^p6di/p6di	standard conditions	Song et al., 2009

PHENOTYPE No data available

CITATIONS (2)