Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
About the condition
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VLCAD deficiency is a long-chain fatty acid oxidation disorder. It is a hereditary disease that is caused by a missing enzyme complex needed to convert fat into energy.
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Inheritance
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Autosomal recessive
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Year screening started in WA |
2005 |
Incidence in Australia
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Currently unknown
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Enzyme defect
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Deficiency of very long-chain acyl-CoA dehydrogenase, an enzyme that participates in fatty acid oxidation
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Symptoms if untreated
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- Hypoketotic hypoglycaemia
- Cardiomyopathy
- Hepatomegaly
- Rhabdomyolysis
- Sudden death possible
- Adult-onset myopathy
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Metabolites on bloodspot screening
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- Increased long-chain acylcarnitines (C14:1 and C14)
- Increased C14:1/C2 ratio
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Diagnostic tests
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- Plasma acylcarnitine profile
- Urine organic acids
- Lymphocyte VLCAD enzymology
- ACADVL gene analysis
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Treatment
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- High-carbohydrate, low-fat diet
- Avoidance of long-chain fatty acids
- Medium-chain triglyceride supplementation
- Cornstarch supplementation
- Possible carnitine supplementation
- Avoidance of fasting
- IV glucose during illness
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Screening issues
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Later-onset and milder variants occur.
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