Tags

Type your tag names separated by a space and hit enter

Early cataract formation due to galactokinase deficiency: impact of newborn screening.
Arch Med Res. 2011 Oct; 42(7):608-12.AM

Abstract

BACKGROUND AND AIMS

Galactokinase (GALK) deficiency is an autosomal recessive disorder causing cataract formation that can be prevented or mitigated by early diagnosis and galactose-restricted diet. The aim of this retrospective study was to explore whether GALK-deficiency meets the criteria for neonatal mass screening programs.

METHODS

From 2000 until 2010, the Screening Laboratory Hannover performed newborn screening in 1,950,927 infants from Germany for galactosemia by measuring galactose-1-phosphate-uridyl-transferase and total galactose concentration (free galactose plus galactose-1-phosphate), including automatic screening for GALK deficiency.

RESULTS

Eleven cases were found with elevated galactose levels accompanied by normal transferase activity. Nine of 11 cases were informative; the diagnosis was established by demonstrating deficient activity of the GALK enzyme in erythrocytes. To our knowledge, screening did not produce any false negative results. All patients were treated with a galactose-restricted diet from the neonatal period or infancy. Three of nine patients suffered from congenital cataracts or eventual development of cataracts, despite normal galactose concentrations in blood.

CONCLUSIONS

Newborn screening for GALK deficiency prevents or at least mitigates cataract formation. As screening for GALK deficiency is technically simple, it seems to be reasonable to include this disorder in routine screening programs by simultaneous determination of transferase activity and quantification of galactose plus galactose-1-phosphate in dried blood spots.

Authors+Show Affiliations

Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany. Janzen.Nils@mh-hannover.deNo 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

22154682

Citation

Janzen, Nils, et al. "Early Cataract Formation Due to Galactokinase Deficiency: Impact of Newborn Screening." Archives of Medical Research, vol. 42, no. 7, 2011, pp. 608-12.
Janzen N, Illsinger S, Meyer U, et al. Early cataract formation due to galactokinase deficiency: impact of newborn screening. Arch Med Res. 2011;42(7):608-12.
Janzen, N., Illsinger, S., Meyer, U., Shin, Y. S., Sander, J., Lücke, T., & Das, A. M. (2011). Early cataract formation due to galactokinase deficiency: impact of newborn screening. Archives of Medical Research, 42(7), 608-12. https://doi.org/10.1016/j.arcmed.2011.11.004
Janzen N, et al. Early Cataract Formation Due to Galactokinase Deficiency: Impact of Newborn Screening. Arch Med Res. 2011;42(7):608-12. PubMed PMID: 22154682.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Early cataract formation due to galactokinase deficiency: impact of newborn screening. AU - Janzen,Nils, AU - Illsinger,Sabine, AU - Meyer,Uta, AU - Shin,Yoon S, AU - Sander,Johannes, AU - Lücke,Thomas, AU - Das,Anibh M, Y1 - 2011/12/05/ PY - 2011/09/29/received PY - 2011/11/04/accepted PY - 2011/12/14/entrez PY - 2011/12/14/pubmed PY - 2012/5/4/medline SP - 608 EP - 12 JF - Archives of medical research JO - Arch Med Res VL - 42 IS - 7 N2 - BACKGROUND AND AIMS: Galactokinase (GALK) deficiency is an autosomal recessive disorder causing cataract formation that can be prevented or mitigated by early diagnosis and galactose-restricted diet. The aim of this retrospective study was to explore whether GALK-deficiency meets the criteria for neonatal mass screening programs. METHODS: From 2000 until 2010, the Screening Laboratory Hannover performed newborn screening in 1,950,927 infants from Germany for galactosemia by measuring galactose-1-phosphate-uridyl-transferase and total galactose concentration (free galactose plus galactose-1-phosphate), including automatic screening for GALK deficiency. RESULTS: Eleven cases were found with elevated galactose levels accompanied by normal transferase activity. Nine of 11 cases were informative; the diagnosis was established by demonstrating deficient activity of the GALK enzyme in erythrocytes. To our knowledge, screening did not produce any false negative results. All patients were treated with a galactose-restricted diet from the neonatal period or infancy. Three of nine patients suffered from congenital cataracts or eventual development of cataracts, despite normal galactose concentrations in blood. CONCLUSIONS: Newborn screening for GALK deficiency prevents or at least mitigates cataract formation. As screening for GALK deficiency is technically simple, it seems to be reasonable to include this disorder in routine screening programs by simultaneous determination of transferase activity and quantification of galactose plus galactose-1-phosphate in dried blood spots. SN - 1873-5487 UR - https://www.unboundmedicine.com/medline/citation/22154682/Early_cataract_formation_due_to_galactokinase_deficiency:_impact_of_newborn_screening_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0188-4409(11)00251-7 DB - PRIME DP - Unbound Medicine ER -