HYPOGLYCEMIA, FAMILIAL NEONATAL

Question 1

What is  HYPOGLYCEMIA, FAMILIAL NEONATAL?

Accepted Answer

rare
autosmal dominant
mutation in the SUR1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hypoglykämie, familiär, neonatal

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 240800

Question 4

Which enzymes are involved?

Accepted Answer

ATP-binding cassette sub-family C member 8

Disease	HYPOGLYCEMIA, FAMILIAL NEONATAL
Synonym	HYPOGLYCEMIA, LEUCINE INDUCED
OMIM	240800 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	ATP-binding cassette sub-family C member 8
Gene locus	11p15.1
ICD
Summary	rare autosmal dominant mutation in the SUR1 gene
Laboratory findings	D-Glucose dec (serum) Insulin inc (serum)
Symptoms	ataxia coma hyperammonemia hypertonia, spasticity hypoglycemia irritability lethargy, drowsiness, apathy mental retardation onset, neonatal seizures strabismus