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Severe hypertriglyceridaemia in diabetic ketoacidosis: clinical and genetic study
Author(s) -
Karagianni C.,
Stabouli S.,
Roumeliotou K.,
TraegerSynodinos J.,
Kavazarakis E.,
Gourgiotis D.,
Lambrou J.,
Kanavakis E.
Publication year - 2004
Publication title -
diabetic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.474
H-Index - 145
eISSN - 1464-5491
pISSN - 0742-3071
DOI - 10.1111/j.1464-5491.2004.1111.x
Subject(s) - medicine , exon , compound heterozygosity , lipoprotein lipase , endocrinology , ketoacidosis , diabetes mellitus , diabetic ketoacidosis , heterozygote advantage , mutation , gene , genetics , type 1 diabetes , genotype , biology , adipose tissue
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 in this patient may play a role in the development of severe hypertriglyceridaemia.