Peroxisomal bifunctional enzyme deficiency with associated retinal findings.
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.
Al-Hazzaa
S A
SA
Department of Ophthalmology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Ozand
P T
PT
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D000328:Adult; D001646:Bile / Q000378:metabolism; D003937:Diagnosis, Differential; D004746:Enoyl-CoA Hydratase / Q000172:deficiency*; D005124:Eye Abnormalities / Q000150:complications*; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007535:Isomerases; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000473:pathology; D009097:Multienzyme Complexes / Q000172:deficiency*; D009123:Muscle Hypotonia / Q000150:complications / Q000151:congenital; D063994:Peroxisomal Bifunctional Enzyme; D018901:Peroxisomal Disorders / Q000150:complications* / Q000201:enzymology*; D012160:Retina / Q000473:pathology; D015211:Zellweger Syndrome / Q000175:diagnosis / Q000473:pathology
D005227:Fatty Acids; D009097:Multienzyme Complexes; D015094:3-Hydroxyacyl CoA Dehydrogenases; C576253:EHHADH protein, human; D004746:Enoyl-CoA Hydratase; D063994:Peroxisomal Bifunctional Enzyme; D007535:Isomerases