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Article

Severe hypertriglyceridaemia in diabetic ketoacidosis: clinical and genetic study.

Diabetic medicine : a journal of the British Diabetic Association - 1 Apr 2004

Karagianni C, Stabouli S, Roumeliotou K, Traeger-Synodinos J, Kavazarakis E, Gourgiotis D, Lambrou J, Kanavakis E

Abstract excerpt

The lipoprotein lipase coding gene sequence was analysed on a 10-year-old girl with new-onset Type 1 diabetes mellitus (DM), ketoacidosis and severe hypertriglyceridaemia (TG > 112.9 mmol/l), revealing that the patient was a compound heterozygote for two mutations, D9N in exon 2 and S447X in exon 9. Although these two mutations usually do not considerably impair lipolytic enzyme activity, the combination of both...

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Identifiers

PMID: 15049943
DOI: 10.1111/j.1464-5491.2004.1111.x

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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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