Study of Protein Translocation in Patients With Beta-Oxidation Disorders

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)20 enrolled

Overview

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

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Beta-Oxidation Disorder Peroxisomal Disorders

Eligibility

Sex: ALLMin age: 1 Day

Medical Language ↔ Plain English

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

Data from ClinicalTrials.gov

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