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GTR Home > Conditions/Phenotypes > Very long chain acyl-CoA dehydrogenase deficiency

Very long chain acyl-CoA dehydrogenase deficiency

Synonyms
VLCAD deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Deficiency of very long-chain acyl-coenzyme A dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes. The severe early-onset cardiac and multiorgan failure form typically presents in the first months of life with hypertrophic or dilated cardiomyopathy, pericardial effusion, and arrhythmias, as well as hypotonia, hepatomegaly, and intermittent hypoglycemia. The hepatic or hypoketotic hypoglycemic form typically presents during early childhood with hypoketotic hypoglycemia and hepatomegaly, but without cardiomyopathy. The later-onset episodic myopathic form presents with intermittent rhabdomyolysis provoked by exercise, muscle cramps and/or pain, and/or exercise intolerance. Hypoglycemia typically is not present at the time of symptoms.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Nancy D Leslie
Sofia Saenz-Ayala
view full author information

Available tests

148 tests are in the database for this condition.

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Clinical tests (148 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACAD6, LCACD, VLCAD, ACADVL
    Summary: acyl-CoA dehydrogenase very long chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C14:1 +/- other long-chain acylcarnitines, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, 2022
  • GMDI/SERN, 2021
    VLCAD Nutrition Management Guidelines

Molecular resources

Consumer resources

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