Document Detail


Histidinaemia. Part III: Impact; a prospective study.
MedLine Citation:
PMID:  6192285     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe a prospective study of histidinaemia. Probands and siblings (n = 21) with typical histidinaemia in 16 families were ascertained by newborn screening; diagnosis was confirmed by appropriate investigations in each subject; none had been treated by low histidine diet. The median age of subjects with histidinaemia was 9.5 y (mean 10.0, SD 3.5, range 6-18). Age-matched sib-pairs and their mothers were studied. IQ scores (Full Scale, Verbal and Performance Scores), Visual-Motor Integration Performance (Bender Gestalt and Koppitz scores), Wide Range Achievement Test (Reading and Mathematics), school performance, and psychological history were evaluated, as well as the medical history (pregnancy, delivery, neonatal, post-natal development). Findings were correlated with biochemical phenotype. CNS development in histidinaemic subjects (mean and distribution of scores) was normal; outlier values did not correlate with degree of histidinaemia. We can conclude that histidinaemia detected by newborn screening is a non-disadaptive phenotype.
Authors:
J T Coulombe; B L Kammerer; H L Levy; B Z Hirsch; C R Scriver
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  6     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  1983  
Date Detail:
Created Date:  1983-09-23     Completed Date:  1983-09-23     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  58-61     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Amino Acid Metabolism, Inborn Errors / physiopathology*
Child
Developmental Disabilities / epidemiology
Female
Histidine / blood*
Humans
Intelligence Tests
Male
Phenotype
Prospective Studies
Grant Support
ID/Acronym/Agency:
01-H-000111-08//PHS HHS
Chemical
Reg. No./Substance:
71-00-1/Histidine

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


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