It is possible that the main title of the report Histidinemia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- HAL deficiency
- HIS deficiency
- histidase deficiency
- histidine ammonia-lyase (HAL) deficiency
Histidinemia is a rare hereditary metabolic disorder characterized by a deficiency of the enzyme histidase, which is necessary for the metabolism of the amino acid histidine. The concentration of histidine is elevated in the blood. Excessive amounts of histidine, imidazole pyruvic acid, and other imidazole metabolism products are excreted in the urine. The majority of individuals with histidinemia have no obvious symptoms that would indicate that a person has this disorder (asymptomatic). Histidinemia is inherited as an autosomal recessive trait.
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 3/19/2012
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