Histidinemia: Difference between revisions
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==Overview== | ==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 cell]]s. | '''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 cell]]s. | ||
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{{Metabolic pathology}} | {{Metabolic pathology}} | ||
[[Category: | [[Category:Endocrinology]] | ||
{{WikiDoc Help Menu}} | {{WikiDoc Help Menu}} | ||
{{WikiDoc Sources}} | {{WikiDoc Sources}} |
Latest revision as of 13:01, 22 July 2016
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Histidinemia | |
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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.