Histidinemia (Hyperhistidinemia; Histidase Deficiency) 5
General: Autosomal recessive; abnormality of amino acid metabolism due to lack of enzyme histidine ammonia lyase; the histidine gene has been assigned to 12q22-q23 by situ hybridization techniques.
Ocular: Nystagmus; hypopigmentation of the macula.
Clinical: Speech defects; mental retardation; head nodding movements; dysarthria; defective hand grip.
Dhir SP, et al. Ocular involvement in histidinaemia. Ophthalmic Pediatr Genet 1987; 8:175-l76.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Taylor RG, et al. Localization of histidase to human chromosome region 12q22-q24.1 and mouse chromosome region 10C2-D1. Cytogenet Cell Genet 1991; 56:178-l81.
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