MODY and Neonatal Diabetes Flashcards
how can MODY generally be described?
type 2 like diabetes occurring in young people
what can cause MODY?
genetic mutations
autosomal dominant inheritance
id MODY insulin dependant?
no
not at the start at least but can progress
mutations in what genes can commonly cause MODY?
glucokinase
defects in genes encoding for transcription factors - HNF1alpha, HNF4alpha etc
MODYX
what does glucokinase do?
first step in glycolysis
glucose > glucose 6 phosphate
what happens in glucokinase defects?
resting/fasting glucose is higher
baseline is higher
glucose doesn’t rise as much after meals to HbA1c isn’t too high
how does transcription factor mutation MODY progress?
normal in childhood
then sudden hyperglycaemia in teens/twenties
features and management of glucokinase mutations?
onset at birth
stable hyperglycaemia
diet treatment
complications rare
when does glucokinase mutation MODY become an issue?
pregnancy
what are the features of transcriptions factor mutation MODY and how is it managed?
adolescence/young adult onset
progressive hyperglycaemia
1/3 diet, 1/3 OHA, 1/3 insulin
complications are frequent
is insulin needed in glucokinase mutation MODY?
no
main difference between MODY and type 2 diabetes?
MODY is very sensitive to SURs
where does transcription factor (HNF1 alpha) mutation affect in the beta cell?
GLUT 2 transporter
mitochondria
L-PK
what can indicate that it isn’t type 1 diabetes on a blood test?
measure C peptide
C peptide secreted with insulin so if plenty of C peptide present it cant be type 1
features of wrongly diagnosed type 1 diabetes?
HbA1c high despite insulin treatment
C peptide post meal on blood test
