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hrp0095p1-236 | Diabetes and Insulin | ESPE2022

A novel homozygous mutation in the Glycerol-3-Phosphate Dehydrogenase 1 gene combined with a heterozygous mutation in the Glucokinase Regulator gene associated with hyperglycaemia, hypertriglyceridaemia and non-alcoholic fatty liver in a 17 year old woman

Avrami Georgia , Drasdo Mojgan , Neuber Steffen , Jorch Norbert , Hamelmann Eckard

Background: Hyperglycaemia combined with hypertriglyceridaemia and non-alcoholic fatty liver, not directly related to Type 1 diabetes mellitus (T1DM,) is a rather uncommon metabolic disorder in children, which often evades early and accurate diagnosis. Even though considerable progress has been made in identifying some of the genes involved, the molecular basis of conditions presenting with hypertriglyceridaemia, deranged liver function and insulin resistance ...

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ESPE Abstracts

A novel homozygous mutation in the Glycerol-3-Phosphate Dehydrogenase 1 gene combined with a heterozygous mutation in the Glucokinase Regulator gene associated with hyperglycaemia, hypertriglyceridaemia and non-alcoholic fatty liver in a 17 year old woman

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