Search
very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency)
Pathology:
- impaired long-chain fatty acid beta-oxidation
Genetics:
1) autosomal recessive
2) VLCAD deficiency is caused by defects in ACADVL gene
Clinical manifestations:
1) clinically heterogenous
2) three major phenotypes:
a) severe childhood form
- early onset, cardiomyopathy commmon, high mortality
b) milder childhood form
- later onset, cardiomyopathy rare, low mortality
- hypoketotic hypoglycemia generally main presenting feature
c) adult form
- isolated skeletal muscle involvement
- rhabdomyolysis, myoglobinuria
- generally triggered by exercise or fasting
General
enzyme deficiency
Database Correlations
OMIM 201475
References
UniProt :accession 604515