Carnitine palmitoyltransferase II deficiency, neonatal form (Q104472): Difference between revisions

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Latest revision as of 10:19, 17 August 2026

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

Language	Label	Description	Also known as
default for all languages	ID_1280842213
English	Carnitine palmitoyltransferase II deficiency, neonatal form	The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.