histidinemia


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histidinemia

[¦his·tə·də′nē·ē·ə]
(medicine)
An asymptomatic, hereditary metabolic disorder involving a deficiency of histidase with high blood and urine levels of histidine, urocanic acid, and sometimes alanine.
References in periodicals archive ?
The examples of alpha-1 antitrypsin deficiency, histidinemia and neuroblastoma demonstrated that early assumptions that NBS screening would lead to improved outcomes does not always occur (Tarini, et al.
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.
Finally, many of the disorders identified in urine, such as histidinemia, iminoglycinuria, and Hartnup disorder, are benign (4).