Severe hypertriglyceridaemia in diabetic ketoacidosis: clinical and genetic study.
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.
Karagianni
C
C
Second Department of Pediatrics, University of Athens, Athens, Greece.
Stabouli
S
S
Roumeliotou
K
K
Traeger-Synodinos
J
J
Kavazarakis
E
E
Gourgiotis
D
D
Lambrou
J
J
Kanavakis
E
E
D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000097:blood* / Q000235:genetics; D016883:Diabetic Ketoacidosis / Q000097:blood* / Q000235:genetics; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D008071:Lipoprotein Lipase / Q000172:deficiency; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D014280:Triglycerides / Q000097:blood*
D014280:Triglycerides; D008071:Lipoprotein Lipase