Document Detail


Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
MedLine Citation:
PMID:  21290184     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Galactokinase deficiency (GALK-D), an autosomal recessive disorder in the Leloir pathway, results in accumulation of galactose, galactitol, and galactonate and leads to early onset of juvenile bilateral cataract. Highest incidence of GALK-D is found in Romani populations. The migration wave due to the Yugoslavian civil war has changed the spectrum of inborn errors of metabolism within Europe. Hence, newborn screening (NBS) in the Berlin region, performed from 1991 until 2010 in 683,675 neonates, revealed an increased incidence of GALK-D of 1:40,000, comparable to that of galactose-1-phosphate-uridyltransferase deficiency. A total of 44% of GALK-D patients were of Romani origin. All patients of Bosnian or Serbian origin were homozygous for the Romani founder mutation p.P28T. Detection of GALK-D by NBS and early start of galactose-restricted diet resulted in regression or prevention of cataracts. Slight cataracts without visual impairment occurred in 50% of the patients, 56% of whom were noncompliant. Further clinical symptoms, e.g., hypoglycemia, mental retardation, microcephaly, and failure to thrive, were associated with noncompliance. With treatment, galactose in blood decreased from 8,892 ± 5,243 to 36.5 ± 49.3 μmol/l, galactose in urine from 31,820 ± 32,103 to 30.0 ± 36.1 μmol/mmol creatinine, galactitol in RBC from 1,584 ± 584 to 12.3 ± 9.4 μmol/l, and galactitol in urine from 11,724 ± 4,496 to 236 ± 116 μmol/mmol creatinine. This is the first presentation of outcome and clinical features in GALK-D patients diagnosed by NBS. As our data suggest, GALK-D should be considered for inclusion in NBS in populations expected to have substantial numbers of GALK-D carriers, e.g., Yugoslavian immigrants.
Authors:
Julia B Hennermann; Peter Schadewaldt; Barbara Vetter; Yoon S Shin; Eberhard Mönch; Jeannette Klein
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Publication Detail:
Type:  Journal Article     Date:  2011-02-03
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  34     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-03-24     Completed Date:  2011-07-15     Revised Date:  2011-12-06    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  399-407     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Charité Universitätsmedizin Berlin, Berlin, Germany. julia.hennermann@charite.de
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MeSH Terms
Descriptor/Qualifier:
Bosnia-Herzegovina
Emigration and Immigration
Female
Galactitol / metabolism
Galactose / metabolism
Galactosemias* / diagnosis,  ethnology,  therapy
Germany
Homozygote
Humans
Incidence
Infant, Newborn
Male
Mutation
Neonatal Screening / methods
Serbia
Treatment Outcome
Chemical
Reg. No./Substance:
26566-61-0/Galactose; 608-66-2/Galactitol

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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