acyl-CoA dehydrogenase—very long-chain—deficiency of

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acyl-CoA dehydrogenase—very long-chain—deficiency of2016-11-24T14:03:57+00:00

acyl-CoA dehydrogenase—very long-chain—deficiency of

METABOLISM

Definition An autosomal recessive condition (OMIM:201475) characterised by a deficiency of the acyl-CoA dehydrogenase that catalyses the first step of mitochondrial beta-oxidation of very long-chain–C14 to C20–fatty acids

Phenotypes

• Severe early-onset cardiac and multiorgan failure form    Presents in early infancy with hypertrophic or dilated cardiomyopathy, pericardial effusion, arrhythmias, hypotonia, hepatomegaly, and intermittent hypoglycemia.

• Hepatic/hypoketotic hypoglycemic form    Presents during early childhood with hypoketotic hypoglycaemia and hepatomegaly, but no cardiomyopathy

• Later-onset episodic myopathic form    Presents with intermittent rhabdomyolysis, muscle cramps and/or pain, and/or exercise intolerance. Hypoglycaemia is typically absent

Management

• Supportive IV glucose, treat arrhythmias, monitor rhabdomyolysis

• Dietary modification Low-fat, supplemental calories with medium-chain triglycerides

• Prevention of complications Acute rhabdomyolysis is treated with hydration and alkalisation of urine to protect renal function and prevent acute renal failure due to myoglobinuria.

• Avoid Fasting, myocardial irritation, dehydration, fatty foods

Molecular pathology Defects of ACADVL cause acyl-CoA dehydrogenase—very long-chain—deficiency of (OMIM:201475). 

Synonyms ACADVLD, very long-chain acyl-CoA dehydrogenase deficiency, very long-chain acyl-coenzyme A dehydrogenase deficiency, VLCAD deficiency 

References http://www.uniprot.org/uniprot/P28330

http://www.omim.org/entry/201475

 

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