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Histidinemia
From Wikipedia, the free encyclopedia
Histidinemia is a rare autosomal recessive metabolic disorder characterized by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine. It 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.
For a thorough scientific overview of disorders of histidine metabolism, one can consult chapter 80 of OMMBID[1]. For more online resources and references, see inborn errors of metabolism.
- ^ Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (Accessed 2007). The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill. - Summaries of 255 chapters, full text through many universities. There is also the OMMBID blog.
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