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Article

Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.

American journal of medical genetics. Part A - 15 Nov 2008

Illsinger Sabine, Lücke Thomas, Peter Michael, Ruiter Jos P N, Wanders Ronald J A, Deschauer Marcus, Handig Ingrid, Wuyts Wim, Das Anibh M

Abstract excerpt

We report on a newborn male, born at term after an uneventful pregnancy presenting with a pathological acylcarnitine profile in routine newborn screening on the third day of life. The profile showed characteristic elevations of C14:0-, C16:0-, C16:1- and C18:1-acylcarnitines, while the ratio of (C16 + C18:1)/C2 was increased, suggesting CPT2- or carnitine-acylcarnitine-translocase- deficiency. The acylcarnitine...

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Share to Carnitine
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

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Source

Identifiers

PMID: 18925671
DOI: 10.1002/ajmg.a.32545

Genes

CPT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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