PMID: 6410118Jan 1, 1983Paper

Histidinaemia. Part II: Impact; a retrospective study

Journal of Inherited Metabolic Disease
A RosenmannH L Levy

Abstract

Forty-two articles published between 1961 and 1977 describing 43 probands and 26 siblings with histidinaemia were used for the retrospective study. Our objective was to describe the apparent impact of the mutation on development and health in human histidinaemia. The findings were similar to those of an earlier survey (Popkin et al., 1974). Most probands (79%) had a disadaptive CNS phenotype (mental retardation, impaired speech, seizures, aberrant behaviour, and/or learning disorder); half the histidinaemic siblings had a similar phenotype. The modal IQ score was 70; age at recognition of symptoms (CNS phenotype) varied from 1 month to 16 y (modal age 2 1/2 y). There was no correlation between blood histidine (reported values) and occurrence of severity of CNS phenotype. Thirty per cent of histidinaemia subjects, for whom the perinatal history was described, had an abnormal experience. Reported cases with the CNS phenotype apparently represent a very small fraction (about 1%) of all subjects with histidinaemia; this implies that the histidinaemia phenotype is not disadaptive in man.

References

Nov 1, 1979·The Journal of Pediatrics·S E SnydermanM Manka
Apr 20, 1974·Lancet·J S PopkinJ Grove
Jul 1, 1974·Archives of Disease in Childhood·G Bulfield, H Kacser
Jul 13, 1973·Nature·H KacserM E Wallace
Jan 1, 1983·Journal of Inherited Metabolic Disease·C R Scriver, H L Levy
Jan 1, 1983·Journal of Inherited Metabolic Disease·J T CoulombeC R Scriver

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Citations

Jan 1, 1990·Journal of Inherited Metabolic Disease·F A Hommes, J S Lee
Jan 1, 1983·Journal of Inherited Metabolic Disease·C R Scriver, H L Levy
Jan 1, 1983·Journal of Inherited Metabolic Disease·J T CoulombeC R Scriver
Apr 1, 1993·Journal of the American College of Nutrition·K Virmani, K Widhalm
Apr 1, 1996·Archives of Disease in Childhood·W K LamJ H Walter
Apr 1, 1987·Acta Paediatrica Japonica; Overseas Edition·M Ishikawa
Feb 1, 1986·The Journal of Pediatrics·R D Schmickel
Jun 1, 1996·European Journal of Epidemiology·J Suárez-EstradaE F Rodríguez-Ferri

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