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Summary
GALACTOSEMIA
GALT
230400
OMIM = Online Medalian Inheritance of Men
79239
9p13.3
  • antibiotics
  • galactose-free diet
  • supportive/symptomatic therapy
  • vitamin K
rare (1:35000 - 60000)
autosomal recessive
symptoms
Amino acids, urine
anemia
anorexia
ascites
cataract
cerebral edema
cholestasis
cirrhosis or fibrosis of liver
diarrhea
encephalopathy
failure to thrive
Fanconi syndrome
feeding difficulties, poor feeding
gallstones, cholelithiasis
hepatomegaly (large liver)
hypoglycemia
jaundice
lethargy, drowsiness, malaise or sleep disorder
liver failure
mental retardation
metabolic acidosis
onset, neonatal
seizures
sepsis (E.coli)
speech development, delayed, abnormal
splenomegaly (large spleen)
tubulopathy
vomiting
weight loss
laboratory finding
Hemoglobine8.0012.0012.0020.00g/dlblood
Bilirubin180.00300.003.4017.00-Ámol/lserum
Galactose-1-phosphate5.0050.000.000.30mg/dlserum
D-Glucose0.503.002.805.00mmol/lserum
Transaminases30.002000.0010.0030.00U/lserum
D-Galactose50.00275.000.00200.00mg/dlplasma
D-Galactose0.000.00 increasedurineno data
Chloride 97.00110.00increasedserum
Galactose-1-phosphate uridyltransferase decreased activityerythrocytes
Galactitol8000.0069000.003.0081.00mmol/mol creatinineurine
Galactitol120.00500.000.080.86-Ámol/lplasma
reducing substances, urine (Clinitest)0.000.00 +urineno data
Protein 50.0080.00increasedurine
Coagulopathy/Coagulation factors abnormalplasma
D-Galactonic acid0.000.00 increasedurineno data
D-Sorbitol0.000.00 increasedurineno data
Literature
Mattiazzi Met al.The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidantsHum Mol Genet138869-8792004
Julier C,Nicolino MWolcott-Rallison syndromeOrphanet J Rare Dis5292010
Parfrey Het al.Inhibiting polymerisation: new therapeutic strategies for Z {alpha}1-antitrypsin related emphysemaAm J Respir Cell Mol Biol002004
Davies LP,Macintyre G, Cox DWNew mutations in the Wilson disease gene, ATP7B: implications for molecular testingGenet Test121139-1452008
Santavuori Pet al.Neuronal ceroid lipofuscinoses in childhoodNeurol Sci (Suppl)210S35-412000
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
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Morizono Het al.Mammalian N-acetylglutamate synthaseMol Genet Metab (Suppl)00S4-112004
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Caldovic Let al.Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemiaHum Genet1124364-3682003
Inui Aet al.A case of neonatal hemochromatosis-like liver failure with spontaneous remissionJ Pediatr Gastroenterol Nutr403374-3772005
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
Juneja A,Sultan A, Bhatnagar SWolcott-rallison syndromeJ Indian Soc Pedod Prev Dent303250-2532012
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Hamosh A,Johnsten MV, Valle DNonketotic hyperglycinemiaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101337-13481995