Document Detail

Histidinaemia. Part I: Reconciling retrospective and prospective findings.
MedLine Citation:
PMID:  6192284     Owner:  NLM     Status:  MEDLINE    
We reach the conclusion that histidinaemia in the typical form (autosomal recessive impairment of L-histidine ammonia lyase activity (EC4.3.1.3)) is not a 'disease' in man. Retrospective and prospective studies (Rosenmann et al., 1983; Coulombe et al., 1983) together indicate that the prevalence of disadaptive phenotypes (e.g. impaired intellectual or speech development, seizures, behavioural or learning disorder) in the histidinaemia population, is not higher than the frequency of these functional disorders in the non-histidinaemia population. However, one cannot exclude the possibility that histidinaemia is a risk factor for development of an unfavourable CNS phenotype, in particular individuals under specific circumstances (e.g. abnormal perinatal events). From this viewpoint, we propose that newborn screening for early diagnosis and treatment of histidinaemia does not meet the criteria for a public health service. Screening for continuing research on histidinaemia remains justifiable, for example, to discern whether there are atypical forms of the biochemical and enzymatic phenotypes.
C R Scriver; H L Levy
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; 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:  51-3     Citation Subset:  IM    
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MeSH Terms
Amino Acid Metabolism, Inborn Errors / physiopathology*
Central Nervous System Diseases / etiology
Developmental Disabilities / epidemiology
Histidine / blood*
Infant, Newborn
Mass Screening
Prospective Studies
Retrospective Studies
Grant Support
01-H-000111-08//PHS HHS
Reg. No./Substance:

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

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