HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6

Question 1

What is  HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6?

Accepted Answer

rare (1:500000)
autosomal dominant
mutation in the glutamate dehydrogenase (GDH) gene
- hypoketotic hypoglycemia (postprandial)
- hyperammonemia (diet-independent)
mutation in the glutamate dehydrogenase (GDH) gene (GLUD1)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperinsulinismus-Hyperammonämie-Syndrom; HHF6

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 606762

Question 4

Which enzymes are involved?

Accepted Answer

Glutamate dehydrogenase 1, mitochondrial

Disease	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6
Synonym	HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
OMIM	606762 OMIM = Online Mendelian Inheritance of Men
Orphanet	35878
Protein (UniProt)	Glutamate dehydrogenase 1, mitochondrial
ExPASy	1.4.1.3
Gene locus	10q23.2
ICD	E72.8
Summary	rare (1:500000) autosomal dominant mutation in the glutamate dehydrogenase (GDH) gene - hypoketotic hypoglycemia (postprandial) - hyperammonemia (diet-independent) mutation in the glutamate dehydrogenase (GDH) gene (GLUD1)
Laboratory findings	Sedoheptulose-7-phosphate inc (urine) 2-Oxoglutaric acid inc (urine) Ammonia inc (blood) D-Glucose normal/dec (serum) Free fatty acids dec (serum) Glutamate dehydrogenase inc (liver) Glutamine/Ammonia dec (plasma)
Symptoms	epilepsy hyperinsulinism hypoglycemia coma hyperammonemia hypoketotic hypoglycemia mental retardation onset, adulthood onset, childhood onset, infancy seizures