Peroxisomal bifunctional enzyme complex deficiency with associated retinal findings

J Pediatr Ophthalmol Strabismus. 1995 Mar-Apr;32(2):125-7. doi: 10.3928/0191-3913-19950301-16.

Abstract

Peroxisomal bifunctional enzyme complex deficiency is a recently recognized abnormality of fatty acid metabolism. We herein present the association of a flecked retina with peroxisomal bifunctional enzyme deficiency, a clinical association not previously reported. We suggest the finding of a flecked retina in an infant presenting with hypotonia, seizures, and failure to thrive is highly suggestive of this diagnosis.

Publication types

  • Case Reports

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases / deficiency*
  • 3-Hydroxyacyl CoA Dehydrogenases / genetics
  • Diagnosis, Differential
  • Enoyl-CoA Hydratase / deficiency*
  • Enoyl-CoA Hydratase / genetics
  • Failure to Thrive / complications
  • Female
  • Fundus Oculi
  • Humans
  • Infant, Newborn
  • Isomerases / deficiency*
  • Isomerases / genetics
  • Microbodies / enzymology*
  • Multienzyme Complexes / deficiency*
  • Multienzyme Complexes / genetics
  • Muscle Hypotonia / complications
  • Peroxisomal Bifunctional Enzyme
  • Retina / pathology*
  • Retinal Diseases / complications
  • Retinal Diseases / diagnosis
  • Retinal Diseases / enzymology*
  • Seizures / complications

Substances

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