[Hypergalactosemia in newborns as uncovered by the Austrian screening program in 12 years (author's transl)].
The Austrian Screening Program examined during 12 years 1,002.424 newborns and uncovered 23 cases of Galactosemia by Transferase deficiency, 6 by Kinase deficiency as well as 1 case of Phosphoglucomutase deficiency, 1 of porto-caval shunt and 1 congenital liver cirrhosis. Among the 23 Transferase deficiencies 18 took a fulminating course and 8 of these died. Since introduction of exchange transfusion as emergency treatment and acceleration of the screening procedure only 2 among 11 have died. Half of all Galactosemia cases, Transferase and Kinase, show already at the first examination (2. week) a cataract which however is reversible. In contrast to Kinase deficiency all cases of Transferase deficiency exhibit mental retardation if they grow older. Since treatment is early (9, 7 days), easy and the IQ already at 4 years 10 points below that of treated PKU's of same age a congenital brain damage has to be considered. Galactosemia by Transferase deficiency is in Western-Austria significantly more frequent than in Eastern-Austria. 17 boys compare with 6 girls. Among 6 cases of Galactosemia by Kinase deficiency 1 belonged to a Gippsy and 2 to Yugoslavian guest worker families. The 23 cases with Transferase deficiency had 45 siblings among whom 11 also were galactosemic. In 8 sibships the clinical course was of the same typ, but in 1 family one child showed the fulminating the other the subacute course.
D001317:Austria; D005260:Female; D005686:Galactokinase / Q000172:deficiency; D005693:Galactosemias / Q000201:enzymology / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000453:epidemiology*; D008297:Male; D008403:Mass Screening; D010733:Phosphoglucomutase / Q000172:deficiency; D006178:Romani People; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency; D015022:Yugoslavia / Q000208:ethnology
D005686:Galactokinase; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D010733:Phosphoglucomutase
Hypergalaktosämien im Neugeborenenalter durch das Osterr. Programm zur Früherfassung angeborener Stoffwechselanomalien in 12 Jahren aufgedeckt.