Severe hypertriglyceridaemia in diabetic ketoacidosis: clinical and genetic study | Zendy

Karagianni C. | Zendy; Stabouli S. | Zendy; Roumeliotou K. | Zendy; TraegerSynodinos J. | Zendy; Kavazarakis E. | Zendy; Gourgiotis D. | Zendy; Lambrou J. | Zendy; Kanavakis E. | Zendy

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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.

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