Document Detail

Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
MedLine Citation:
PMID:  21290184     Owner:  NLM     Status:  MEDLINE    
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.
Julia B Hennermann; Peter Schadewaldt; Barbara Vetter; Yoon S Shin; Eberhard Mönch; Jeannette Klein
Related Documents :
14502264 - Mortality in severe, non aggressively treated adult autoimmune thrombocytopenia.
1623054 - A long-term clinical trial of interferon alpha-therapy in essential thrombocythemia.
6608464 - A case of bleeding duodenal varices located in the third portion.
7572894 - Diverticular bleeding: are nonsteroidal anti-inflammatory drugs risk factors for hemorr...
11257324 - A rating system for prompt clinical diagnosis of ischemic stroke.
10587604 - Investigation of bacteremia after orthodontic banding.
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    
Department of Pediatrics, Charité Universitätsmedizin Berlin, Berlin, Germany.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Emigration and Immigration
Galactitol / metabolism
Galactose / metabolism
Galactosemias* / diagnosis,  ethnology,  therapy
Infant, Newborn
Neonatal Screening / methods
Treatment Outcome
Reg. No./Substance:
26566-61-0/Galactose; 608-66-2/Galactitol

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

Previous Document:  Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity.
Next Document:  Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.