Homocystinuria Clinical Trial
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.
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.
;
Primary Purpose: Screening
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