Document Detail


Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia.
MedLine Citation:
PMID:  23319291     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Classic galactosemia is a potentially lethal disorder that results from profound deficiency of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme in the Leloir pathway of galactose metabolism. Although early diagnosis and rigorous dietary restriction of galactose prevent or resolve the potentially lethal acute symptoms, patients are at markedly increased risk of long-term complications including significant cognitive, speech, and behavioral difficulties, among other problems. The mechanisms that underlie these long-term complications remain unclear, as do the factors that modify their severity. Here we explored the scholastic and behavioral outcomes experienced by a cohort of 54 school age children with classic galactosemia. Data collected included survey responses from parents and teachers, school records including standardized test scores, and GALT genotype data used to estimate predicted residual GALT activity based on a yeast expression system. As expected, many but not all of the children in our study demonstrated speech, scholastic, and behavioral difficulties. Perhaps most striking, we found that predicted cryptic residual GALT activity, often below the threshold of detection of clinical assays, appeared to modify scholastic outcome. These data raise the intriguing possibility that cryptic GALT activity might also influence the severity of other long-term complications in classic galactosemia.
Authors:
Emily L Ryan; Mary Ellen Lynch; Elles Taddeo; Tyler J Gleason; Michael P Epstein; Judith L Fridovich-Keil
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural     Date:  2013-01-15
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  36     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2013 Nov 
Date Detail:
Created Date:  2013-10-31     Completed Date:  2014-07-15     Revised Date:  2014-11-04    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  1049-61     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Child
Child Behavior / physiology
Child, Preschool
Cognition / physiology*
Female
Galactosemias / diagnosis*,  enzymology*,  epidemiology,  genetics
Humans
Language Development
Learning / physiology*
Male
Prognosis
Schools* / statistics & numerical data
Speech / physiology
UTP-Hexose-1-Phosphate Uridylyltransferase / genetics,  metabolism*
Grant Support
ID/Acronym/Agency:
R01 DK059904/DK/NIDDK NIH HHS; R01 DK059904/DK/NIDDK NIH HHS; T32 GM008367/GM/NIGMS NIH HHS; T32 GM008367/GM/NIGMS NIH HHS; T32 MH087977/MH/NIMH NIH HHS; TL1 RR025010/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
EC 2.7.7.10/UTP-Hexose-1-Phosphate Uridylyltransferase
Comments/Corrections

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