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 ass...

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Bibliographic Details
Published in:Ophthalmic genetics 1997-06, Vol.18 (2), p.93-99
Main Authors: Al-Hazzaa, Selwa A.F., Ozand, Pinar T.
Format: Article
Language:English
Subjects:
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
Metabolism, Inborn Errors - pathology
Multienzyme Complexes - deficiency
Muscle Hypotonia - complications
Muscle Hypotonia - congenital
Peroxisomal Bifunctional Enzyme
Peroxisomal Disorders - complications
Peroxisomal Disorders - enzymology
Retina - pathology
Zellweger Syndrome - diagnosis
Zellweger Syndrome - pathology
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Summary: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.
ISSN:1381-6810
1744-5094
DOI:10.3109/13816819709057121