MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1 (MODY1)

Question 1

What is  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1 (MODY1)?

Accepted Answer

rare (1:400)
autosomal dominant

mutation in the HNF4A gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

MODY [Maturity onset diabetes of young people] Typ 1;

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 125850

Question 4

Which enzymes are involved?

Accepted Answer

Hepatocyte nuclear factor 4-alpha

Disease	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1 (MODY1)
Synonym	MODY, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I
OMIM	125850 OMIM = Online Mendelian Inheritance of Men
Orphanet	552
Protein (UniProt)	Hepatocyte nuclear factor 4-alpha
ExPASy	---
Gene locus	20q13.12
ICD	E11.9_
Summary	rare (1:400) autosomal dominant mutation in the HNF4A gene
Laboratory findings	D-Glucose inc (urine) D-Glucose inc (serum) Free fatty acids dec (serum) HbA1c n/i (blood) Insulin increased (plasma) Ketone bodies (urine) decreased (urine) 3-Hydroxybutyric acid inc (urine) Acetoacetic acid inc (urine) pH dec (blood) reducing substances, urine (Clinitest) inc (urine)
Symptoms	diabetes mellitus hyperinsulinism hypoketotic hypoglycemia macrosomia Glucose tolerance, impaired glucosuria onset, adolescent onset, childhood onset, infancy onset, neonatal polydipsia (increased drinking) polyuria