histidinemia


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histidinemia

 [his″tĭ-dĭ-ne´me-ah]
a hereditary aminoacidopathy marked by excessive histidine in the blood and urine due to deficient histidase activity; many affected persons show mild mental retardation and disordered speech development.

his·ti·di·ne·mi·a

(his'ti-di-nē'mē-ă), [MIM*235800]
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.

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.

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
References in periodicals archive ?
Modifications of the Guthrie test can also be used to detect maple syrup urine disease (MSUD), homocystinuria, tyrosinemia, histidinemia, valinemia, and galatosemia (Henry, 2001; Strasinger, Lorenzo, 2001).
Se ha mencionado al menos dos docenas de condiciones asociadas en la literatura: sindrome de Le cri-du-chat, sindrome de Prader-Willi, sindrome de Angelman, sindrome de Rubenstein-Taybi, sindrome de Smith-Magenis, sindrome de Rett, histidinemia, enfermedad de Lesch-Nyhan, sindrome de fragilidad del cromosoma X, esclerosis tuberosa, neurofibromatosis tipo 1, fenilcetonuria, entre otros (36-38).
The 1970s saw a number of states add to universal PKU screening programs tests for other metabolic disorders including congenital hypothyroidism, histidinemia, homocystinuria, galactosemia, maple syrup urine disease, and tyrosinemia, as well as hemoglobinopathies, notably sickle cell disease.