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Article

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.

Journal of inherited metabolic disease - 1 Dec 2010

Piekutowska-Abramczuk Dorota, Olsen Rikke K J, Wierzba Jolanta, Popowska Ewa, Jurkiewicz Dorota, Ciara Elżbieta, Ołtarzewski Mariusz, Gradowska Wanda, Sykut-Cegielska Jolanta, Krajewska-Walasek Małgorzata, Andresen Brage S, Gregersen Niels, Pronicka Ewa

Abstract excerpt

Isolated long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is associated with c.1528G>C substitution in the HADHA gene, since most patients have the prevalent mutation on at least one allele. As it is known that the disease is relatively frequent in Europe, especially around the Baltic Sea, and that the majority of Polish LCHADD patients originate from the coastal Pomeranian province, partly...

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Source

Identifiers

PMID: 20814823
DOI: 10.1007/s10545-010-9190-7

Genes

HADHA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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