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.

Synonyms

electron transfer flavoprotein deficiency
electron transfer flavoprotein ubiquinone oxidoreductase deficiency

Cross References

Parent Terms

inherited metabolic disorder

Child Terms

None

Sources of Associations

Associated Genes

Gene	Species	Association	Disease Qualifier	Disease	Evidence	Based On	Source	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Associated Alleles

Allele	Species	Association	Disease Qualifier	Disease	Evidence	Source	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Associated Models

Model	Species	Experimental condition	Association	Disease Qualifiers	Disease	Condition Modifier	Genetic Modifier	Evidence	Source	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

multiple acyl-CoA dehydrogenase deficiency

multiple acyl-CoA dehydrogenase deficiency

Associated Genes

Associated Alleles

Associated Models