HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4

Question 1

What is  HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4?

Accepted Answer

very rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperinsulinismus durch Mangel an kurzkettiger 3-Hydroxyacyl-CoA-Dehydrogenase; HHF4

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 609975

Question 4

Which enzymes are involved?

Accepted Answer

Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial

Disease	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4
Synonym	HHF4
OMIM	609975 OMIM = Online Mendelian Inheritance of Men
Orphanet	71212
Protein (UniProt)	Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
ExPASy	1.1.1.35
Gene locus	4q25
ICD	E71.3
Summary	very rare autosomal recessive
Laboratory findings	3-Hydroxybutyrylcarnitine (C4-OH) inc (dried blood spot (DB) 3-Hydroxydicarboxylic acid normal/inc (urine) 3-Hydroxybutyrylcarnitine (C4-OH) inc (plasma) 3-Hydroxyglutaric acid inc (urine) Ammonia inc (blood) D-Glucose dec (plasma) Dicarboxylic acids inc (urine) Insulin inc (plasma)
Symptoms	coma diabetes mellitus hyperammonemia hyperinsulinism hypoglycemia hypoketotic hypoglycemia liver failure mental retardation microcephaly (<2 SD for age) onset, infancy onset, neonatal seizures