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Summary
GALACTOSEMIA II (GALK)
GALAKTOKINASE DEFICIENCY GALACTOKINASE DEFICIENCY
230200
OMIM = Online Medalian Inheritance of Men
352
17q25.1
  • galactose-free diet
rare (<1:100.000)
autosomal recessive
symptoms
cataract
mental retardation
onset, infancy
pseudotumor cerebri
laboratory finding
Galactokinase 100.00decreased activityerythrocytes
Galactose 0.00200.00increasedplasmanewborn
Galactose0.000.00 increasedurineno data
reducing substances, urine (Clinitest)0.000.00 +urineno data
Galactitol
Literature
Schollen Eet al.DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)Eur J Hum Genet1010643-6482002
Segal SBerry GTDisorders of galactose metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.125967-10001995
Mole SEThe genetic spectrum of human neuronal ceroid-lipofuscinosesBrain Pathol14170-762004
Rahman S,et al.Inborn errors of metabolism causing epilepsyDev Med Child Neurol55123-262013
Griffey Met al.AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosisMol Ther002005
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Ozbek MN,et al.Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literaturePediatr Diabetes114279-2852010
Taschner PEet al.From gene to disease from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosisNed Tijdschr Geneeskd1496300-3032005