title: [Clinical and biochemical diagnosis of galactosemia among our cases].
abstract: Clinical and biochemical diagnostic studies concerned 17 cases of galactosemia coming from 15 not consauguineous families. Galactosemia was diagnosed between 1-st day and 11-th month of life. Tentative diagnosis based on clinical picture was made in 12 infants, others were detected through family history of galactosemia and/or biochemical newborn screening carried out at the National Research Institute of Mother and Child since 1969. Clinical symptoms of galactosemia occurred in most patients in the first week of life. They were the following (tab. II): hepatomegaly (in 94%), jaundice (81%), splenomegaly (79%), vomitus (62%) and diarrhoea in 56% of patients. Cataract was found in 6 infants (38%). Biochemical diagnosis was based on the results of enzymatic estimation of galactose-1-phosphate uridyl transferase activity in blood, galactose-1-phosphate in red blood cells and galactose in blood and urine. No activity of galactose-1-phosphate uridyl transferase was found in all patients, and the concentration of galactose-1-phosphate was higher than 25 mg/100 ml of red blood cells. High galactose level was observed in blood and urine in all patients with typical clinical course of galactosemia. In 2 patients however without clinical symptoms of the disease only trace amounts of galactose was detected in blood and urine. All these patients were treated with galactose free diet.
mesh_terms: D000328:Adult; D001786:Blood Glucose / Q000032:analysis; D004912:Erythrocytes / Q000032:analysis; D005260:Female; D005690:Galactose / Q000378:metabolism; D005693:Galactosemias / Q000175:diagnosis* / Q000235:genetics; D005695:Galactosephosphates / Q000097:blood; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood / Q000172:deficiency; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood / Q000172:deficiency
chemical_list: D001786:Blood Glucose; D005695:Galactosephosphates; C029973:galactose-1-phosphate; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase; D005690:Galactose
vernacular_title: Kliniczna i biochemiczna diagnostyka galaktozemii na podstawie własnych przypadków.