Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 02-01-2023

Symbol	VLCADD
Location	17p13.1
Name	VLCAD deficiency presenting a severe childhood form
Other name(s)	ACADVL deficiency
Corresponding gene	ACADVL
Main clinical features	early onset, hypertrophic cardiomyopathy (may be associated with the variant T171I of ETFA) and a high mortality, a milder childhood form with later onset, hypoketotic hypoglycemia, rare cardiomyopathy, an adult form with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria triggered by exercise or fasting
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lipoprotein-lipid
Type	disease

Gene product

Name	acyl-CoA dehydrogenase, very long chain (ACADVL)

Remark(s)