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GTR Home > Conditions/Phenotypes > Histidinemia

Histidinemia

Synonyms
Deficiency of histidine ammonia-lyase; HAL deficiency; HIS deficiency; Histidase deficiency; Histidine ammonia-lyase deficiency; Hyperhistidinemia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Histidinemia is a metabolic disorder 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. Although histidinemia was originally associated with mental retardation and speech defects, it is generally considered to be a benign disorder (Levy et al., 2001). However, it is possible that histidinemia may be a risk factor for developmental disorders in certain individuals under specific circumstances, such as perinatal events (Ishikawa, 1987). [from OMIM]

Available tests

7 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HIS, HSTD, HAL
    Summary: histidine ammonia-lyase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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