title: Peroxisomal bifunctional enzyme complex deficiency with associated retinal findings.
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.
authors.affiliation: Department of Ophthalmology, Ochsner Clinic, New Orleans, LA 70121, USA.
authors.forename: H S
authors.initials: HS
authors.lastname: Eustis
authors.forename: T
authors.initials: T
authors.lastname: Curry
authors.forename: D W
authors.initials: DW
authors.lastname: Superneau
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D003937:Diagnosis, Differential; D004746:Enoyl-CoA Hydratase / Q000172:deficiency* / Q000235:genetics; D005183:Failure to Thrive / Q000150:complications; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007231:Infant, Newborn; D007535:Isomerases / Q000172:deficiency* / Q000235:genetics; D008830:Microbodies / Q000201:enzymology*; D009097:Multienzyme Complexes / Q000172:deficiency* / Q000235:genetics; D009123:Muscle Hypotonia / Q000150:complications; D063994:Peroxisomal Bifunctional Enzyme; D012160:Retina / Q000473:pathology*; D012164:Retinal Diseases / Q000150:complications / Q000175:diagnosis / Q000201:enzymology*; D012640:Seizures / Q000150:complications
chemical_list: D009097:Multienzyme Complexes; D015094:3-Hydroxyacyl CoA Dehydrogenases; C576253:EHHADH protein, human; D004746:Enoyl-CoA Hydratase; D063994:Peroxisomal Bifunctional Enzyme; D007535:Isomerases