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An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.
Pediatr Res. 2002 May; 51(5):598-601.PR

Abstract

In galactokinase (GALK) deficiency, galactose cannot be phosphorylated into galactose-1-phosphate, which leads to cataract formation. Neonatal screening for hypergalactosemia in Berlin has been performed by thin-layer chromatography since 1978, which detects classical galactosemia and GALK deficiency. Until 1991, GALK deficiency has not been identified in a total of approximately 260,000 samples. In contrast, from 1992 to 1999, nine patients were detected in a total of approximately 240,000 screened newborns. One Turkish patient was homozygous for two novel S142I/G148C GALK mutations in close proximity to the putative ATP-binding site of the enzyme. The other eight children were born to five families belonging to the Bosnian refugee population consisting of approximately 30,000 individuals who have arrived in Berlin since 1991. In two of these families, GALK deficiency was subsequently diagnosed in siblings who had cataract surgery at 4 and 5 y of age, respectively. In all these 10 Bosnian patients, a homozygous P28T mutation located near the active center of the enzyme was identified. We propose that neonatal screening of populations with a significant proportion of Bosnians and possibly other southeastern Europeans, e.g. Romani, should be particularly directed toward GALK deficiency, an inborn error of metabolism that is readily amenable to effective treatment.

Authors+Show Affiliations

Children's Hospital, Charité, Campus Virchow, Humboldt University, D-10247 Berlin, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

11978883

Citation

Reich, Susanne, et al. "An Unexpectedly High Frequency of Hypergalactosemia in an Immigrant Bosnian Population Revealed By Newborn Screening." Pediatric Research, vol. 51, no. 5, 2002, pp. 598-601.
Reich S, Hennermann J, Vetter B, et al. An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening. Pediatr Res. 2002;51(5):598-601.
Reich, S., Hennermann, J., Vetter, B., Neumann, L. M., Shin, Y. S., Söling, A., Mönch, E., & Kulozik, A. E. (2002). An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening. Pediatric Research, 51(5), 598-601.
Reich S, et al. An Unexpectedly High Frequency of Hypergalactosemia in an Immigrant Bosnian Population Revealed By Newborn Screening. Pediatr Res. 2002;51(5):598-601. PubMed PMID: 11978883.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening. AU - Reich,Susanne, AU - Hennermann,Julia, AU - Vetter,Barbara, AU - Neumann,Luitgard M, AU - Shin,Yoon S, AU - Söling,Ariane, AU - Mönch,Eberhard, AU - Kulozik,Andreas E, PY - 2002/4/30/pubmed PY - 2002/10/31/medline PY - 2002/4/30/entrez SP - 598 EP - 601 JF - Pediatric research JO - Pediatr. Res. VL - 51 IS - 5 N2 - In galactokinase (GALK) deficiency, galactose cannot be phosphorylated into galactose-1-phosphate, which leads to cataract formation. Neonatal screening for hypergalactosemia in Berlin has been performed by thin-layer chromatography since 1978, which detects classical galactosemia and GALK deficiency. Until 1991, GALK deficiency has not been identified in a total of approximately 260,000 samples. In contrast, from 1992 to 1999, nine patients were detected in a total of approximately 240,000 screened newborns. One Turkish patient was homozygous for two novel S142I/G148C GALK mutations in close proximity to the putative ATP-binding site of the enzyme. The other eight children were born to five families belonging to the Bosnian refugee population consisting of approximately 30,000 individuals who have arrived in Berlin since 1991. In two of these families, GALK deficiency was subsequently diagnosed in siblings who had cataract surgery at 4 and 5 y of age, respectively. In all these 10 Bosnian patients, a homozygous P28T mutation located near the active center of the enzyme was identified. We propose that neonatal screening of populations with a significant proportion of Bosnians and possibly other southeastern Europeans, e.g. Romani, should be particularly directed toward GALK deficiency, an inborn error of metabolism that is readily amenable to effective treatment. SN - 0031-3998 UR - https://www.unboundmedicine.com/medline/citation/11978883/An_unexpectedly_high_frequency_of_hypergalactosemia_in_an_immigrant_Bosnian_population_revealed_by_newborn_screening_ L2 - http://dx.doi.org/10.1203/00006450-200205000-00009 DB - PRIME DP - Unbound Medicine ER -