Study of Homocysteine Metabolism in Homocystinuria

National Center for Research Resources (NCRR)60 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Homocystinuria

Eligibility

Sex: ALLMin age: 0 YearsHealthy volunteers:

Medical Language ↔ Plain English

PROTOCOL ENTRY CRITERIA: --Disease Characteristics-- Known or suspected homocystinuria Cystathionine beta-synthase-deficient homocystinuria Obligate heterozygotes for cystathionine beta-synthase deficiency Premature vascular disease

Data from ClinicalTrials.gov

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