This report describes multiple acyl-CoA dehydrogenase deficiency (MADD), also called glutaric acidemia II; MADD exhibits an autosomal recessive pattern of inheritance. MADD can be caused by mutations in at least three different genes, ETFA (electron transfer flavoprotein alpha subunit), ETFB (electron transfer flavoprotein beta subunit), and ETFDH (electron transfer flavoprotein dehydrogenase), all of which are are involved in electron transfer in the mitochondrial respiratory chain. Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related, has been investigated in flies; see FBhh0000541.
[updated Jun. 2017 by FlyBase; FBrf0222196]
[MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD](https://omim.org/entry/231680)
Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation; it is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=26791).
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. [from MIM:231680; 2017.05.31]
Multiple acyl-CoA dehydrogenase deficiency (MADD) can be caused by mutations in at least three different genes: ETFA, ETFB, and ETFDH. It is inherited as an autosomal recessive. [from MIM:231680; 2017.05.31]
ETFA (electron transfer flavoprotein alpha subunit), ETFB (electron transfer flavoprotein beta subunit), and ETFDH (electron transfer flavoprotein dehydrogenase) are involved in electron transfer in the mitochondrial respiratory chain. [from MIM:608053, MIM:130410, MIM:231675; 2017.05.31]
