Study of Protein Translocation in Patients With Beta-Oxidation Disorders
Data Collection
Collected from today forward - ProspectiveMetabolic Diseases+7
+ Congenital, Hereditary, and Neonatal Diseases and Abnormalities
+ Nutritional and Metabolic Diseases
Cohort
Tracking disease incidence in order to identify risk factors and understand disease progression over time.Summary
Study start date: September 1, 1995
Actual date on which the first participant was enrolled.PROTOCOL OUTLINE: Patients undergo clinical and molecular analysis of beta-oxidation enzyme metabolism. The evaluation includes a urinary metabolite profile, and DNA and familial studies.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.20 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Cohort
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 not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
Criteria
PROTOCOL ENTRY CRITERIA: Beta-oxidation disorder, including: Medium-chain acyl-coenzyme A dehydrogenase deficiency Long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency Very-long-chain acyl-coenzyme A dehydrogenase deficiency Short-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency Long-chain 3-ketoacyl-coenzyme A thiolase deficiency Trifunctional protein deficiency Patient age: 1 day and over