Homocysteine Metabolism Study in Homocystinuria
Data Collection
Amino Acid Metabolism, Inborn Errors+16
+ Brain Diseases
+ Brain Diseases, Metabolic
Summary
Study start date: February 1, 1995
Actual date on which the first participant was enrolled.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.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.60 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.Healthy volunteers allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
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