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Hawkinsinuria

Summary

Hawkinsinuria (HWKS) is an autosomal dominant inborn error of metabolism. Metabolic acidosis and tyrosinemia are transient, and symptoms improve within the first year of life. Patients continue to excrete the hawkinsin metabolite in their urine throughout life (Danks et al., 1975; Tomoeda et al., 2000). [from OMIM]

Available tests

22 tests are in the database for this condition.

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Clinical tests (22 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 4-HPPD, 4HPPD, GLOD3, HPPD, HPPDASE, PPD, HPD
    Summary: 4-hydroxyphenylpyruvate dioxygenase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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