Abstract

Tyrosinemia Type I is a lethal inherited inborn error of metabolism which produces cirrhosis of the liver and hepatocellular carcinoma. Until recently, the only effective therapy was liver transplant. The drug NTBC has been developed as an inhibitor of 4-hydroxyphenylpyruvate dioxygenase. The drug is well tolerated and produces dramatic biochemical improvement. Long-term studies of the drug to determine if it avoids cirrhosis and hepatocellular carcinoma are in process and the drug has been adopted by a pharmaceutical company. One patient is being studied at the University of Michigan.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000042-39
Application #
6297102
Study Section
Project Start
1998-12-01
Project End
1999-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
39
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
University of Michigan Ann Arbor
Department
Type
DUNS #
791277940
City
Ann Arbor
State
MI
Country
United States
Zip Code
48109

  Publications

Robarge, Jason D; Desta, Zereunesay; Nguyen, Anne T et al. (2017) Effects of exemestane and letrozole therapy on plasma concentrations of estrogens in a randomized trial of postmenopausal women with breast cancer. Breast Cancer Res Treat 161:453-461
Crane, Natania A; Jenkins, Lisanne M; Bhaumik, Runa et al. (2017) Multidimensional prediction of treatment response to antidepressants with cognitive control and functional MRI. Brain 140:472-486
Hertz, Daniel L; Speth, Kelly A; Kidwell, Kelley M et al. (2017) Variable aromatase inhibitor plasma concentrations do not correlate with circulating estrogen concentrations in post-menopausal breast cancer patients. Breast Cancer Res Treat 165:659-668
Hertz, D L; Kidwell, K M; Seewald, N J et al. (2017) Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in postmenopausal patients with breast cancer. Pharmacogenomics J 17:521-527
Kadakia, Kunal C; Kidwell, Kelley M; Seewald, Nicholas J et al. (2017) Prospective assessment of patient-reported outcomes and estradiol and drug concentrations in patients experiencing toxicity from adjuvant aromatase inhibitors. Breast Cancer Res Treat 164:411-419
Spengler, Erin K; Kleiner, David E; Fontana, Robert J (2017) Vemurafenib-induced granulomatous hepatitis. Hepatology 65:745-748
Heidemann, Lauren; Law, James; Fontana, Robert J (2017) A Text Searching Tool to Identify Patients with Idiosyncratic Drug-Induced Liver Injury. Dig Dis Sci 62:615-625
Law, Ian H; Alam, Osman; Bove, Edward L et al. (2016) Follow-Up of a Prospective Surgical Strategy to Prevent Intra-Atrial Reentrant Tachycardia After the Fontan Operation. Circ Arrhythm Electrophysiol 9:
Schrepf, Andrew; Harper, Daniel E; Harte, Steven E et al. (2016) Endogenous opioidergic dysregulation of pain in fibromyalgia: a PET and fMRI study. Pain 157:2217-2225
As-Sanie, Sawsan; Kim, Jieun; Schmidt-Wilcke, Tobias et al. (2016) Functional Connectivity is Associated With Altered Brain Chemistry in Women With Endometriosis-Associated Chronic Pelvic Pain. J Pain 17:1-13

Showing the most recent 10 out of 1380 publications