Week 1/2 - D - MODY

Question 1

WHat is the non-insulin dependent diabetes mellitus, usually before the age of 25?
It is an autosomal dominant disorder

Answer 1

MODY - maturity onset diabetes of the young

Question 2

What two mutations most commonly cause MODY?

Answer 2

Mutations in the HNF1a gene
Mutations in the glucokinase enzyme

remember, once glucose is taken up by the pancreatic beta cells by GLUT2 transporter, enzymes

• hexokinase (higher affinity)
• and glucokinase (works at higher glucose concentrations and has a higher vmax) phosphorylate glucose to glucose-6-phosphate to enter the resp cycle where ATP is produced

Question 3

IN MODY, how are the glucokinase mutation patients usually treated?

Answer 3

Usually just diet control

Question 4

What is the one third rule that is used to treat patients with transcription factor (HNF1a) mutations?

Answer 4

1/3rd diet
1/3rd oral hypoglycaemic agent (sulphonylureas)
1/3rd insulin

Question 5

What are the two forms of neonatal diabetes diagnosed in children?

Answer 5

Transient neonatal diabetes mellitus (TNDM)

Permanent neonatal diabetes mellitus (PNDM)

Question 6

In TNDM, diabetes is usually diagnosed within the first week of life

When should the condition resolve and therefore insulin be stopped?

In PNDM, is insulin ever stopped?

Answer 6

IN TNDM - condition should resolve roughly after 12 weeks and insulin stopped

Permanent neonatal diabetes (PNDM)

Diabetes usually diagnosed 0 - 6 weeks

Lifelong treatment with insulin