very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency)

Pathology

• impaired long-chain fatty acid beta-oxidation

Genetics

• autosomal recessive
• VLCAD deficiency is caused by defects in ACADVL gene

Clinical manifestations

• clinically heterogenous
• three major phenotypes:
  • severe childhood form
    • early onset, cardiomyopathy commmon, high mortality
  • milder childhood form
    • later onset, cardiomyopathy rare, low mortality
    • hypoketotic hypoglycemia generally main presenting feature
  • adult form
    • isolated skeletal muscle involvement
    • rhabdomyolysis, myoglobinuria
    • generally triggered by exercise or fasting

More general terms

• enzyme deficiency

Database

• OMIM: https://mirror.omim.org/entry/201475