Study of Homocysteine Metabolism in Homocystinuria
OBJECTIVES: I. Determine basal and postmethionine plasma homocysteine in patients with premature vascular disease, cystathionine beta-synthase (CBS) or methylenetitrahydrofolate reductase (MTHFR) deficiency, and in obligate heterozygotes for CBS or MTHFR.
II. Determine whole-body homocysteine metabolic rates with isotopically-labeled methionine.
|Study Design:||Primary Purpose: Screening|
|Study Start Date:||February 1995|
|Estimated Study Completion Date:||October 2000|
PROTOCOL OUTLINE: This is a two-part study of homocysteine metabolism. Age-matched normal controls are entered in both parts of the study.
In first part of the study, participants are given oral methionine; baseline and postmethionine studies include amino acid quantitation, analysis of rapidly deproteinized plasma, and total plasma homocysteine.
In the second part of the study, participants (men and postmenopausal women only) undergo methionine tracer studies.
|Study Chair:||Bruce Barshop||University of California, San Diego|