Tyrosinemia Type I

Tyrosinemia type I, also known as hepatorenal tyrosinemia, is a rare inborn error of tyrosine metabolism. Clinical symptoms are highly variable even among members of the same family and affected individuals can present at any time from the neonatal period to adulthood. The disorder has been classified based on the age of onset, which broadly correlates with disease severity. The acute form typically presents prior to 6 months of age with acute liver failure. A sub-acute form manifests between 6 months and 1 year of age with liver disease, hypoglycemia, failure to thrive, coagulopathy, hepatosplenomegaly, renal Fanconi syndrome that may lead to rickets, and hypotonia. The chronic form presents after the first year of life with chronic liver disease, renal disease, rickets, cardiomyopathy and/or neurologic crises similar to porphyria. Patients with all forms have a high risk of developing hepatocarcinoma, even at a very young age.

Tests Available

Forms and Documents

Test Details

FAH
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

3661
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
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
* For price inquiries please email zebras@genedx.com

References

  1. Bergman et al., (1998) Hum Mutat 12 :19-26.
  2. Rootwelt et al., (1994) Am J Hum Genet 55 :1122-1127.
  3. Grompe et al., (1994) N Engl J Med 11(6):353-7.
  4. St-Louis, M. and Tanguay R.M. (1997) Hum Mutat 9 :291- 299.
  5. Arranz et al., (2002) Hum Mutat 20:180-188.

Forms and Documents

Test Details

ALPL, ANKH, AP2S1, CASR, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FGF23, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes of abnormalmineralization
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TA45
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs | Extracted DNA

Billing

81404x1; 81405x1; 81406x2
No
Yes
* For price inquiries please email zebras@genedx.com