Disease or Syndrome
histidinemia
Definitions related to histidinemia:
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Autosomal recessive aminoacidopathy due to deficiency of histidine ammonia-lyase; characterized by accumulation of histidine in serum and urinary excretion of histidine and metabolites, but is usually benign; may cause mild central nervous system dysfunction.CRISP ThesaurusNational Institutes of Health, 2006
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(hyperhistidinemia) An increased concentration of histidine in the blood.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
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Histidinemia is an inherited metabolic condition characterized by elevated levels of the amino acid histidine in blood, urine, and cerebrospinal fluid. In most cases, people with this condition have no health problems and may not even know that they are affected. Individuals with histidinemia who also experience a medical complication...National Center for Advancing Translational Sciences
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