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Article

A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.

Molecular genetics and metabolism - 1 Dec 2006

Korman Stanley H, Pitt James J, Boneh Avihu, Dweikat Imad, Zater Mokhtar, Meiner Vardiella, Gutman Alisa, Brivet Michèle

Abstract excerpt

Carnitine-acylcarnitine translocase (CACT) deficiency is a rare disorder of fatty acid oxidation associated with high mortality. Two female newborns of different ethnic origin (the first Anglo-Celtic and the second Palestinian Arab) both died after sudden collapse on day 2 of life. Both had eleva...

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Share to Amino Acid Metabolism, Inborn Errors
Share to DNA, Complementary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fatal Outcome

Share to Genes, Lethal

Share to Infant, Newborn

Share to Membrane Transport Proteins

Share to RNA Splicing

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 16919490
DOI: 10.1016/j.ymgme.2006.06.009

Genes

CPT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16919490-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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