The combination of D9N and S447X mutations in the lipoprotein lipase gene may contribute to severe hypertriglyceridaemia in the setting of diabetic ketoacidosis.
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May link LPL compound heterozygosity to severe hypertriglyceridaemia in diabetic ketoacidosis; hypothesis-generating and requires confirmation.
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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Karagianni et al. (2004) studied this question.
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