Histidinemia

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Histidinemia
L-histidine-skeletal.png
Histidine
ICD-10 E70.8
ICD-9 270.5
OMIM 235800
DiseasesDB 29669

Overview

Histidinemia is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine. Histidenemia is characterized by increased levels of histidine in blood, urine and cerebrospinal fluid, and decreased levels of the metabolite urocanic acid in blood, urine, and skin cells.

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