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A metabolic disorder characterized by speech defects, growth deficiency, and mild mental retardation in some patients; associated with elevation of blood histidine level and excretion of histidine and related imidazole metabolites in urine due to deficiency of histidine ammonia lyase or histidinase; autosomal recessive inheritance, caused by mutation in the histidinase gene (HIS) on chromosome 12q.
[histidine + G. haima, blood, + -ia]
histidinemia/his·ti·din·emia/ (his″tĭ-din-e´me-ah) a hereditary aminoacidopathy marked by excessive histidine in the blood and urine due to deficient histidase activity; it is usually benign but may cause mild central nervous system dysfunction.
an inherited metabolic disorder caused by an enzyme defect involving L-histidine ammonia lyase and affecting the amino acid histidine. The condition leads to retardation and nervous system disorders. It is controlled by diet that limits the intake of histidine.