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Histidinemia Definition

Histidinemia, also known as histidinuria, is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase.

Histidinemia Diagnosis

Histidenemia is marked by increased levels of histidine, histamine and imidazole in blood, urine and cerebrospinal fluid. This also results in reduced levels of the metabolite urocanic acid in blood, urine, and skin cells.

Histidinemia Symptoms and Signs

Though it may remain asymptomatic for a few years, symptoms will typically present by early childhood. Common symptoms include hyperactivity, developmental delay, speech impediment, learning difficulties, and sometimes mental retardation.

Histidinemia Treatment

Dietary treatment based on low-histidine lowers the blood histidine level.

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