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Summary
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7 HHF7
EXERCISE-INDUCED-HYPERINSULINSM EIHI
610021
OMIM = Online Medalian Inheritance of Men
165991
1p13.2
rare
autosomal dominant
mutation in the SLC16A1 gene
Exercise induced hyperinsulinaemic hypoglycaemia should be included in the differential diagnosis of recurrent exercise related syncope and other disturbances of consciousness [Meissner, T et al. 2001]
symptoms
coma
hyperinsulinism
hypoglycemia
onset, infancy
seizures
syncope
laboratory finding
D-Glucose decreasedblood
Insulin increasedplasma
Insulin/Glucose ratio, increasedserum
Free fatty acids decreasedserum
Literature
Sana C,et al.Farber disease in a newbornPediatr Dermatol26144-462009
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Ramsubir S,et al.In vivo delivery of human acid ceramidase via cord blood transplantation and direct injection of lentivirus as novel treatment approaches for Farber diseaseMol Genet Metab953133-1412008