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Summary
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6 HHF6
HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
606762
OMIM = Online Medalian Inheritance of Men
35878
10q23.2
rare
autosomal dominant
mutation in the glutamate dehydrogenase (GDH) gene
- hypoketotic hypoglycemia (postprandial)
- hyperammonemia (diet-independent)
mutation in the glutamate dehydrogenase (GDH) gene (GLUD1)
symptoms
coma
epilepsy
hyperammonemia
hyperinsulinism
hypoglycemia
mental retardation
onset, adulthood
onset, childhood
onset, infancy
seizures
laboratory finding
Ammonia100.00300.00 -Ámol/lblood
Glutamate dehydrogenase increased activityliver
Glutamine/Ammonia ratio, lowplasma
Thiamine pyrophosphate0.000.00 increasedurineno data
Sedoheptulose-7-phosphate increasedurine
Literature
Mueller T,et al.Congenital secretory diarrhoea caused by activating germline mutations in GUCY2CGut6581306-13132016
Berg Tet al.Spectrum of mutations in alpha-mannosidosisAm J Hum Genet64177-881999
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Bakker HDet al.Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?Eur J Hum Genet9291-962001
Blau NDhondt JNTetrahydrobiopterin deficiency and an international database of patientsAdv Exp Med Biol3380255-2611993
Barut K,Sahin S, Kasapcopur OPediatric vasculitisCurr Opin Rheumatol28129-382016
Scriver CRWhatever happended to PKU?Clin Biochem282137-1441995
Medsinge A,Nischal KKPediatric cataract: challenges and future directionsClin Ophthalmol9077-902015
Smooker PMCotton RGMolecular basis of dihydropteridine reductase deficiencyHum Mutat54279-2841995
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980