Study of Protein Translocation in Patients With Beta-Oxidation Disorders

National Institutes of Health (NIH)

Status: Completed

Conditions: Peroxisomal Disorders; Beta-Oxidation Disorder

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00004348

199/11907

R37DK020407 (U.S. NIH Grant/Contract)

WUSM-880075R

Details and patient eligibility

About

OBJECTIVES:

I. Characterize inheritance patterns of mutations in patients with beta-oxidation disorders.

Full description

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.

Enrollment: 20 patients

Sex: All

Ages: 1+ day old

Volunteers: No Healthy Volunteers

Inclusion and exclusion 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