Hawkinsinuria

Hawkinsinuria is a rare disorder of tyrosine metabolism that has been attributed to mutations in the HPD gene. Individuals with hawkinsinuria may be asymptomatic or exhibit failure to thrive, episodes of tyrosinemia and metabolic acidosis that respond to protein restriction. Symptoms improve within the first year of life. Patients with Hawkinsinuria may be detected by newborn screening

Tests Available

Forms and Documents

Test Details

HPD
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancie
  • Capillary Sequencing

Ordering

495
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 270.2 Other disturbances of aromatic amino-acid metabolism, Albinism, Alkaptonuria, Alkaptonuric ochronosis, Disturbances of metabolism of tyrosine and tryptophan, Homogentisic acid defects, Hydroxykynureninuria Hypertyrosinemia, Indicanuria, Kynureninase defects, Oasthouse urine disease, Ochronosis, Tyrosinosis, Tyrosinuria, Waardenburg syndrome
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References

  1. Item et al., (2007) Mol Genet Metab 91:379-383.
  2. Tomoeda et al., (2000) Mol Genet Metab 71:506-510.
  3. Ruetschi et al., (2000) Hum Genet 106:654-662.