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Professional Technical IVT

LCHADD

Also written as: LCHADD — Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, a fatty acid oxidation disorder identified through acylcarnitine profiling.

Full Definition

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a mitochondrial fatty acid oxidation disorder that can cause hypoketotic hypoglycemia, cardiomyopathy, and hepatomegaly. It is detected through newborn screening by measuring elevated C16OH and C18:1OH acylcarnitines. Early diagnosis allows for dietary management with frequent feeding, medium-chain triglyceride supplementation, and avoidance of fasting to prevent metabolic decompensation.

Usage

Usage note: Distinguish from VLCADD in screening algorithms; both affect long-chain fatty acid oxidation.

In Context

  • "Elevated C16OH acylcarnitine prompted molecular testing to confirm LCHADD." — case report
  • "LCHADD can present with maternal HELLP syndrome during pregnancy." — clinical review

Also known as

LCHAD deficiency long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Don't confuse with

VLCADD CPT II deficiency
lancet depth setting ← Back to glossary leucine:isoleucine ratio

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