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Definition

An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation with fatal outcome, presenting shortly after birth. It is characterized by respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects. recessive.

Acronym

CPT2DLN

Synonyms

Carnitine palmitoyltransferase II deficiency, antenatal
Carnitine palmitoyltransferase II deficiency, neonatal
CPT2 deficiency, lethal neonatal
CPT II deficiency, lethal neonatal
Lethal neonatal CPT-II deficiency