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Professional Technical IVT

CPDI

Also written as: CPDI — Carnitine palmitoyltransferase I deficiency

Carnitine palmitoyltransferase I deficiency, a fatty acid oxidation disorder affecting hepatic enzyme activity.

Full Definition

Carnitine palmitoyltransferase I deficiency is a rare disorder affecting the hepatic isoform of the rate-limiting enzyme for fatty acid oxidation. Unlike CPT II deficiency, CPT I deficiency typically presents with hypoketotic hypoglycemia and hepatomegaly rather than muscle symptoms. Screening detection relies on elevated C0 (free carnitine) levels and decreased acylcarnitine species. The condition requires careful distinction from other causes of elevated carnitine.

Usage

Usage note: Distinguish from CPT II deficiency; note different organ involvement and presentation.

In Context

  • "Elevated free carnitine with low acylcarnitines suggested possible CPDI deficiency." — screening result
  • "CPDI affects hepatic rather than muscle carnitine palmitoyltransferase activity." — biochemistry review

Also known as

CPT1A deficiency carnitine palmitoyltransferase IA deficiency

Don't confuse with

CPT II deficiency carnitine uptake defect
congenital hypothyroidism ← Back to glossary critical congenital heart disease

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