histidinemia

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.

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his·ti·di·ne·mi·a (hst-d-nm-)

n.

A hereditary disorder characterized by an elevation of histidine levels in the blood, excretion of histidine in the urine due to deficient histidase activity, and often manifested clinically by mild mental retardation.

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histidinemia

[his′tidinē′mē·ə]

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.

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histidinemia

Molecular medicine A common–1:10,000–often asymptomatic AR condition characterized by a deficiency of histidase, the enzyme that converts histidine to urocanic acid in the liver and skin Clinical Variable which, when symptomatic, is of neonatal onset with impaired speech, growth and mental retardation Lab Some excess histidine is transaminated to imidazole, the urinary metabolite of which, imidazolepyruvic acid, is detectable by the ferric chloride test or by Phenistix, otherwise used to diagnose PKU