geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course


, : Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course. European Journal of Pediatrics 149(10): 722-726

A progressive demyelinating cerebral disorder is described in a normally-appearing female infant with neonatal seizures, progressive psychomotor deterioration, deafness, retinopathy, peripheral neuropathy and loss of myelin observed on magnetic resonance imaging (MRI) scanning. MRI also showed the absence of macroscopic neocortical dysplasia which is usually found in Zellweger syndrome (ZS). Adrenal cortical function was normal. The patient died at the age of 37 months. Extensive biochemical investigations of peroxisomal functions in the patient revealed an impairment of peroxisomal beta-oxidation resulting in elevated levels of very long (greater than C22) chain fatty acids in plasma and fibroblasts. Moreover, elevated plasma levels of intermediates of bile acid biosynthesis such as tri- and dihydroxycholestanoic acid were found. Other peroxisomal functions were normal. Immunoblotting of the peroxisomal beta-oxidation enzyme proteins in liver from the patient revealed normal responses with antisera against acyl-CoA oxidase, bifunctional protein and thiolase respectively. From these data we conclude that the patient had a deficiency of a single peroxisomal beta-oxidation enzyme at the level of either the bifunctional protein or peroxisomal thiolase with retained immunoreactivity against these enzymes.

US$29.90

PMID: 2209666


Other references

Jay, O.; Gariépy, L.M.; Reardon, F.D.; Webb, P.; Ducharme, M.B.; Ramsay, T.; Kenny, G.P., 2006: A three-compartment thermometry model for the improved estimation of changes in body heat content. The aim of this study was to use whole body calorimetry to directly measure the change in body heat content (DeltaH(b)) during steady-state exercise and compare these values with those estimated using thermometry. The thermometry models tested wer...

Pelmont J., 1972: Membrane l amino acid oxidases of bacteria of the genus proteus. Bulletin de la Societe Chimique de France 18B: 15-16

Kosova, A.; Kiku, V., 1976: Causes of sterility in interspecific hybrids obtained from crossing cultivated tomato with Lycopersicon peruvianum Mill. Izvestiia Akademii nauk Moldavskoi SSR: seriia biologicheskikh i khimicheskikh nauk: 30-35

Clouse, K.M.; Williams, K.A.; Harmon, J.M., 2015: Improving the No-Show Rate of New Patients in Outpatient Psychiatric Practice: An Advance Practice Nurse-Initiated Telephone Engagement Protocol Quality Improvement Project. The aim is to improve the uptake of psychiatric services for new patients being referred from primary care, counseling, and hospital discharge follow-up care. A convenience sample of 18 new patients participated in a provider-initiated telephone p...

Fremd, T.J., 1997: Collection reliability in terrestrial assemblages. Journal of Vertebrate Paleontology 17(3 SUPPL ): 47A

Maksudov N.Kh; Avezov K.; Maksumova K.G., 1975: Study of the exterminating effect of chemical preparations on micro sclerotia of the fungus verticillium dahliae. Uzbekskii Biologicheskii Zhurnal 19(1): 13-14

Conley, J.A., 1976: The drug cost crisis. Health Education 7(1): 5-7

Miyamoto Hiromiti (Hiromichi Miyamoto), 1943: Mineral resources of Lesser Sunda and Molucca islands. Chigaku Zasshi = Journal of Geography 55(653): 229-236

Lopes, M.Margaret.; Podgorny, I., 2014: Between seas and continents: aspects of the scientific career of Hermann von Ihering, 1850-1930. This paper covers some periods in Hermann von Ihering's scientific trajectory: his training in zoology in Germany and Naples, his international activities based in Brazil, and his return to Germany. It deals with aspects of the formulation of...

Trochu, J-Noel.; Mital, S.; Zhang, X.ping.; Xu, X.; Ochoa, M.; Liao, J.K.; Recchia, F.A.; Hintze, T.H., 2003: Preservation of NO production by statins in the treatment of heart failure. Objective: Because statins promote endogenous nitric oxide (NO) production in vessels by increasing endothelial nitric oxide synthase (eNOS), we evaluated the clinical benefit and efficiency of simvastatin in preventing the decrease in NO control...