Peroxisomal bifunctional enzyme deficiency with associated retinal findings.

Abstract

Peroxisomal disorders include single enzyme defects and defects of peroxisomal fatty acid oxidation enzymes. Peroxisomal bifunctional enzyme complex deficiency is a recently recognized abnormality of fatty acid metabolism. We present one patient with peroxisomal bifunctional enzyme deficiency in association with a flecked retina. This clinical association has only been previously reported once. The finding of a flecked retina in an infant presenting with hypotonia, seizures, and failure to thrive is highly suggestive of peroxisomal bifunctional enzyme complex deficiency.

• Authors: S A Al-Hazzaa, P T Ozand
• Journal: Ophthalmic genetics (Ophthalmic Genet) Vol. 18 Issue 2 Pg. 93-9 (Jun 1997) ISSN: 1381-6810 [Print] England
• PMID: 9228246 (Publication Type: Case Reports, Journal Article)

Chemical References

• Fatty Acids
• Multienzyme Complexes
• 3-Hydroxyacyl CoA Dehydrogenases
• EHHADH protein, human
• Enoyl-CoA Hydratase
• Peroxisomal Bifunctional Enzyme
• Isomerases

Topics

• 3-Hydroxyacyl CoA Dehydrogenases (deficiency)
• Adult
• Bile (metabolism)
• Diagnosis, Differential
• Enoyl-CoA Hydratase (deficiency)
• Eye Abnormalities (complications)
• Fatty Acids (metabolism)
• Female
• Humans
• Infant
• Infant, Newborn
• Isomerases
• Male
• Metabolism, Inborn Errors (diagnosis, pathology)
• Multienzyme Complexes (deficiency)
• Muscle Hypotonia (complications, congenital)
• Peroxisomal Bifunctional Enzyme
• Peroxisomal Disorders (complications, enzymology)
• Retina (pathology)
• Zellweger Syndrome (diagnosis, pathology)