Histidinaemia. Part II: Impact; a retrospective study
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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 (Popkinet 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 2½ 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.
KeywordsHistidine Atopic Dermatitis Marfan Syndrome Biopterin Impaired Speech
- Holmgren, G. and Gustavson, K. H. Occurrence of aminoacidopathies in 2500 children with psychoneurological diseases.Uppsala J. Med. Sci. 82 (1979) 247–253Google Scholar
- Pannetier, E. L'histidinemie. Que pent-on en penser? M. D. Thesis. Univ. Lyon. France, Lyon, 1976, pp. 1–225Google Scholar
- Reinecke, C. J. and Mienie, L. J. Some inborn errors of metabolism at a local institute for mentally retarded patients.J. Inherit. Metab. Dis. (1981) 119–120Google Scholar
- Snyderman, S. E., Sansaricq, C., Norton, P. M. and Manka, M. The nutritional therapy of histidinemia.J. Pediatr. (1979) 712–715Google Scholar