Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
Alternative names
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- Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase deficiency
- Mitochondrial trifunctional protein deficiency
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About the condition
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LCHAD 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 long-chain 3-hydroxyacyl-CoA dehydrogenase or the mitochondrial trifunctional protein, which participate in fatty acid oxidation.
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Symptoms if untreated
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- Hypoketotic hypoglycaemia
- Hypotonia
- Hepatomegaly
- Cardiomyopathy
- Rhabdomyolysis
- Peripheral neuropathy
- Pigmentary retinopathy
- Coma and death possible
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Metabolites on bloodspot screening
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Increased long-chain hydroxyacylcarnitines (C16OH, C18OH, C18:1OH).
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Diagnostic tests
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- Plasma acylcarnitine profile
- Urine organic acids
- HADHA and HADHB gene analysis
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Treatment
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- Regulation of dietary fat intake
- Medium-chain triglyceride supplementation
- Cornstarch supplementation
- Avoidance of fasting
- IV glucose during illness
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Screening issues
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None
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