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[Hypergalactosemia in newborns as uncovered by the Austrian screening program in 12 years (author's transl)].
Klin Padiatr. 1980 Nov; 192(6):613-9.KP

Abstract

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.

Authors

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Pub Type(s)

English Abstract
Journal Article

Language

ger

PubMed ID

6452554

Citation

Thalhammer, O, et al. "[Hypergalactosemia in Newborns as Uncovered By the Austrian Screening Program in 12 Years (author's Transl)]." Klinische Padiatrie, vol. 192, no. 6, 1980, pp. 613-9.
Thalhammer O, Scheibenreiter S, Knoll E, et al. [Hypergalactosemia in newborns as uncovered by the Austrian screening program in 12 years (author's transl)]. Klin Padiatr. 1980;192(6):613-9.
Thalhammer, O., Scheibenreiter, S., Knoll, E., & Wehle, E. (1980). [Hypergalactosemia in newborns as uncovered by the Austrian screening program in 12 years (author's transl)]. Klinische Padiatrie, 192(6), 613-9.
Thalhammer O, et al. [Hypergalactosemia in Newborns as Uncovered By the Austrian Screening Program in 12 Years (author's Transl)]. Klin Padiatr. 1980;192(6):613-9. PubMed PMID: 6452554.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Hypergalactosemia in newborns as uncovered by the Austrian screening program in 12 years (author's transl)]. AU - Thalhammer,O, AU - Scheibenreiter,S, AU - Knoll,E, AU - Wehle,E, PY - 1980/11/1/pubmed PY - 1980/11/1/medline PY - 1980/11/1/entrez SP - 613 EP - 9 JF - Klinische Padiatrie JO - Klin Padiatr VL - 192 IS - 6 N2 - 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. SN - 0300-8630 UR - https://www.unboundmedicine.com/medline/citation/6452554/[Hypergalactosemia_in_newborns_as_uncovered_by_the_Austrian_screening_program_in_12_years__author's_transl_]_ L2 - https://www.thieme-connect.com/DOI/DOI?10.1055/s-2008-1035652 DB - PRIME DP - Unbound Medicine ER -