DIABETES MELLITUS, PERMANENT NEONATAL

Question 1

What is  DIABETES MELLITUS, PERMANENT NEONATAL?

Accepted Answer

rare
autosomal dominant

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Diabetes mellitus, neonataler permanenter; Diabetes mellitus beim Neugeborenen

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 606176

Question 4

Which enzymes are involved?

Accepted Answer

Insulin, Glucokinase, ATP-binding cassette sub-family C member 8, ATP-sensitive inward rectifier potassium channel 11

Disease	DIABETES MELLITUS, PERMANENT NEONATAL
Synonym	DIABETES MELLITUS, PERMANENT, OF INFANCY; PDMI
OMIM	606176 OMIM = Online Mendelian Inheritance of Men
Orphanet	99885
Protein (UniProt)	Insulin, Glucokinase, ATP-binding cassette sub-family C member 8, ATP-sensitive inward rectifier potassium channel 11
Gene locus	7p13;11p15.5;11p15.1
ICD	P70.2
Summary	rare autosomal dominant
Laboratory findings	D-Glucose inc (plasma)
Symptoms	EEG abnormalities [-] hyperglycemia hypotonia ketosis, ketoacidosis metabolic acidosis onset, infancy onset, neonatal ptosis (drooping eyelid) seizures small for gestational age (SGA), intrauterine growth retardation (IUGR)