Acyl-CoA Dehydrogenase, Very Long-Chain, Deficiency of

Alternative Names

  • ACADVLD
  • VLCAD Deficiency
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

OMIM Number

201475

Mode of Inheritance

Autosomal recessive

Gene Map Locus

17p13.1

Description

VLCAD deficiency is a rare disorder caused by the inability of the body to metabolize very long-chain fatty acids, resulting in hypoglycemia, lethargy, muscle weakness and pain. Affected individuals are also at risk for liver anomalies such as hepatomegaly, hepatic steatosis and hepatocellular necrosis, as well as cardiac defects such as hypertrophic cardiomyopathy. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
201475.1.1LebanonMaleYesYes Tachypnea ; Metabolic acidosis ; Hepa...NM_000018.4:c.711_712delHomozygousAutosomal, RecessiveTouma et al, 2001 The patient had two ...
201475.2Saudi ArabiaMale Decreased circulating carnitine concentr...NM_000018.4:c.1699C>THomozygousAutosomal, RecessiveMonies et al. 2017
201475.3Saudi ArabiaMaleYes Decreased circulating carnitine concentr...NM_000018.4:c.65C>AHomozygousAutosomal, RecessiveMonies et al. 2017
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