Study of Homocysteine Metabolism in Homocystinuria

National Center for Research Resources (NCRR)

Status: Completed

Conditions: Homocystinuria

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00004356

UCSD-1033

199/11920

Details and patient eligibility

About

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.

Full description

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.

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

PROTOCOL ENTRY CRITERIA:

--Disease Characteristics--

Known or suspected homocystinuria Cystathionine beta-synthase-deficient homocystinuria Obligate heterozygotes for cystathionine beta-synthase deficiency Premature vascular disease