Journal article
Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency: Biochemical Studies in Fibroblasts from Three Patients
Pediatric research, Vol.23(6), pp.603-605
06/1988
DOI: 10.1203/00006450-198806000-00015
PMID: 3393393
Abstract
We studied fibroblasts from three patients with long-chain acyl-coenzyme A dehydrogenase (LCADH) deficiency; siblings H.C. and J.C. had milder clinical phenotypes than unrelated patient R-l. In H.C, J.C, and R-l oxidation of [9,10(n)-3H]palmitate was 50, 48, and 28% of control, respectively, with R-l having significantly less activity than H.C. and J.C. (p < 0.05). Assays of mitochondrial shortchain and medium-chain acyl-coenzyme A dehydrogenases were normal in H.C. and J.C. However, mitochondrial LCADH activities in all three ranged from 17 to 21% of control. Flavin adenine dinucle-otide addition increased LCADH activities in all three to 27-36% of control. In the presence of monospecific mediumchain acyl-coenzyme A dehydrogenase antiseria, LCADH activity decreased 17% in controls, and fell to <11% of control in J.C. and R-l. The heterogeneity observed in the [3H]palmitate oxidation studies was not explained by differences in LCADH activities under any assay condition. © 1988 International Pediatrics Research Foundation, Inc.
Details
- Title: Subtitle
- Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency: Biochemical Studies in Fibroblasts from Three Patients
- Creators
- Brad A Amendt - University of IowaAnn Moon - University of IowaLisa Teel - University of IowaWilliam J Rhead - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Pediatric research, Vol.23(6), pp.603-605
- DOI
- 10.1203/00006450-198806000-00015
- PMID
- 3393393
- NLM abbreviation
- Pediatr Res
- ISSN
- 0031-3998
- eISSN
- 1530-0447
- Language
- English
- Date published
- 06/1988
- Academic Unit
- Orthodontics; Anatomy and Cell Biology; Craniofacial Anomalies Research Center; Pharmacy Practice and Science; Dental Research
- Record Identifier
- 9984284328102771
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