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Summary
HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
GLUTAMATE DEHYDROGENASE 1 GLUD1
606762
OMIM = Online Medalian Inheritance of Men
35878
10q23.3
rare - hypoketotic hypoglycemia (postprandial) - hyperammonemia (diet-independent)
symptoms
coma
epilepsy
hyperammonemia
hypoglycemia
onset, adult
onset, child
onset, infant
seizures
laboratory finding
Ammonia100.00300.00 -Ámol/lblood
Glutamate dehydrogenase increased activityliver
Glutamine/Ammonia ratio, lowplasma
2-Oxoglutaric acid0.000.00 increasedurineno data
Literature
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
Scriver CRWhatever happended to PKU?Clin Biochem282137-1441995
Smooker PMCotton RGMolecular basis of dihydropteridine reductase deficiencyHum Mutat54279-2841995
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980