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Summary
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4 HHF4
HHF4
609975
OMIM = Online Medalian Inheritance of Men
71212
4q25
very rare
autosomal recessive
symptoms
coma
diabetes mellitus
hyperinsulinism
hypoglycemia
hypoketotic hypoglycemia
liver failure
mental retardation
microcephaly (<2 SD for age)
onset, infancy
onset, neonatal
seizures
laboratory finding
D-Glucose decreasedblood
Insulin
Ammonia increasedblood
3-Hydroxyglutaric acid increasedurine
Dicarboxylic acids increasedurine
3-Hydroxybutyrylcarnitine (C4-OH) increasedplasma, DB
Literature
Mueller T,et al.Congenital secretory diarrhoea caused by activating germline mutations in GUCY2CGut6581306-13132016
Milosevic S,Tran K, OBrien BA rare cause of high anion gap metabolic acidosisIntern Med J431100-1012013
Trocello JM,et al.Wilsons disease, 100 years later ...Rev Neurol (Paris)16912936-9432013
Schilsky MLA century for progress in the diagnosis of Wilson diseaseJ Trace Elem Med Biol284492-4942014
Chanprasert S,Scaglia FAdult liver disorders caused by inborn errors of metabolism: review and updateMol Genet Metab11411-102015