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GENATLAS PHENOTYPE

last update : 29-06-2016

Symbol	MADD2
Location	1q22
Name	Multiple acyl-CoA dehydrogenase deficiencies 2
Corresponding gene	FLAD1
Main clinical features	metabolic disorder with combined respiratory-chain deficiency and a neuromuscular phenotype affected individuals presented with muscle symptoms and multiple-respiratory-chain deficiency, hypotonia and swallowing and speech difficulties metabolic myopathy with lipid storage and respiratory-chain deficiency, but no hearing or visual impairment, and peripheral-nerve conduction velocity was normal
Genetic determination	autosomal recessive
Function/system disorder
Type	disease

Remark(s)

all FLAD1-defective individuals should initially be treated with riboflavin no matter their type of mutation (PMID: 271)