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Peroxisomal bifunctional enzyme deficiency with associated retinal findings
1Department of Ophthalmology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Ophthalmic Genetics
|June 1, 1997
Summary
Peroxisomal bifunctional enzyme deficiency, a fatty acid metabolism disorder, can present with a rare flecked retina. This finding in infants with hypotonia suggests this specific peroxisomal disorder.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Peroxisomal disorders encompass single enzyme defects and issues with peroxisomal fatty acid oxidation.
- Peroxisomal bifunctional enzyme complex deficiency is an emerging abnormality in fatty acid metabolism.