Overnight Fasting Blood Phenylalanine Levels in Patients with Pku and Bhp

Abstract

This pilot study will measure the variation in blood phenylalanine levels over 24 hr in patients with phenylketonuria (PKU) and benign hyperphenylalaninemia (BHP), compared to normal controls. The investigators hypothesize that blood phenyl- alanine levels reach higher and potentially toxic levels during the day, and that overnight fasting levels are not a true reflection of dietary control. Study results may lead to new dietary protocols and more appropriate times for blood sampling.

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Center for Research Resources (NCRR)
• Type: General Clinical Research Centers Program (M01)
• Project #: 5M01RR000096-36
• Application #: 2480412
• Budget Start: 1996-10-01
• Budget End: 1997-09-30
• Support Year: 36
• Fiscal Year: 1997

Institution

• Name: New York University
• City: New York
• State: NY
• Country: United States
• Zip Code: 10016

Publications

Jun, Gyungah R; Chung, Jaeyoon; Mez, Jesse et al. (2017) Transethnic genome-wide scan identifies novel Alzheimer's disease loci. Alzheimers Dement 13:727-738

Homann, O R; Misura, K; Lamas, E et al. (2016) Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness. Mol Psychiatry 21:1690-1695

Ridge, Perry G; Hoyt, Kaitlyn B; Boehme, Kevin et al. (2016) Assessment of the genetic variance of late-onset Alzheimer's disease. Neurobiol Aging 41:200.e13-200.e20

Hohman, Timothy J; Bush, William S; Jiang, Lan et al. (2016) Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics Consortium. Neurobiol Aging 38:141-150

Jun, G; Ibrahim-Verbaas, C A; Vronskaya, M et al. (2016) A novel Alzheimer disease locus located near the gene encoding tau protein. Mol Psychiatry 21:108-17

Ebbert, Mark T W; Boehme, Kevin L; Wadsworth, Mark E et al. (2016) Interaction between variants in CLU and MS4A4E modulates Alzheimer's disease risk. Alzheimers Dement 12:121-129

Hohman, Timothy J; Cooke-Bailey, Jessica N; Reitz, Christiane et al. (2016) Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk. Alzheimers Dement 12:233-43

Mukherjee, Shubhabrata; Walter, Stefan; Kauwe, John S K et al. (2015) Genetically predicted body mass index and Alzheimer's disease-related phenotypes in three large samples: Mendelian randomization analyses. Alzheimers Dement 11:1439-1451

Østergaard, Søren D; Mukherjee, Shubhabrata; Sharp, Stephen J et al. (2015) Associations between Potentially Modifiable Risk Factors and Alzheimer Disease: A Mendelian Randomization Study. PLoS Med 12:e1001841; discussion e1001841

Li, Yi; Tsui, Wai; Rusinek, Henry et al. (2015) Cortical laminar binding of PET amyloid and tau tracers in Alzheimer disease. J Nucl Med 56:270-3