Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies
| Autor: | Ann B. Moser, Paul A. Watkins, Gerald V. Raymond, Beth A. Hicks, Hugo W. Moser, Martina C. McGuinness, Jeanne M. Sisk |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
medicine.medical_specialty
Zellweger syndrome Plasmalogen Infant Biology Peroxisome medicine.disease Cerebrohepatorenal syndrome Hypotonia Endocrinology Neurology Peroxisomal Bifunctional Enzyme Multienzyme Complexes Internal medicine Child Preschool Peroxisomal disorder medicine Acyl-CoA oxidase Humans Neurology (clinical) Acyl-CoA Oxidase medicine.symptom Oxidoreductases Zellweger Syndrome |
| Zdroj: | Annals of neurology. 38(3) |
| ISSN: | 0364-5134 |
| Popis: | The clinical distinction between patients with a disorder of peroxisome assembly (e.g., Zellweger syndrome) and those with a defect in a peroxisomal fatty acid beta-oxidation enzyme can be difficult. We studied 29 patients suspected of belonging to the latter group. Using complementation analysis, 24 were found to be deficient in enoylcoenzyme A hydratase/3-hydroxyacylcoenzyme A dehydrogenase bifunctional enzyme and 5 were deficient in acyl-CoA oxidase. Elevated plasma very long-chain fatty acids (VLCFA), impaired fibroblast VLCFA beta-oxidation, decreased fibroblast phytanic acid oxidation, normal plasmalogen synthesis, normal plasma L-pipecolic acid level, and normal subcellular catalase distribution were characteristic findings in both disorders. The elevation in plasma VLCFA levels and impairment in fibroblast VLCFA beta-oxidation were more severe in bifunctional-deficient than in oxidase-deficient patients. The clinical course in bifunctional deficiency (profound hypotonia, neonatal seizures, dysmorphic features, age at death approximately 9 months) was more severe than in oxidase deficiency (moderate hypotonia without dysmorphic features, development of a leukodystrophy, age at death approximately 4 yr). Based on these findings, accurate early diagnosis of these deficiencies of peroxisomal beta-oxidation enzymes is possible. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text