Histidinemia
Histidinemia | |
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Histidine | |
ICD-10 | E70.8 |
ICD-9 | 270.5 |
OMIM | 235800 |
DiseasesDB | 29669 |
WikiDoc Resources for Histidinemia |
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Ongoing Trials on Histidinemia at Clinical Trials.gov Clinical Trials on Histidinemia at Google
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US National Guidelines Clearinghouse on Histidinemia
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Patient resources on Histidinemia Discussion groups on Histidinemia Patient Handouts on Histidinemia Directions to Hospitals Treating Histidinemia Risk calculators and risk factors for Histidinemia
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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.