Journal article
The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria: mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts
The Journal of clinical investigation, Vol.78(1), pp.205-213
1986
DOI: 10.1172/JCI112553
PMCID: PMC329551
PMID: 3722376
Abstract
The multiple acyl-coenzyme A (CoA) dehydrogenation disorders (MAD) include severe (S) and mild (M) variants, glutaric aciduria type II (MAD:S) and ethylmalonic-adipic aciduria (MAD:M). Intact MAD:M mitochondria oxidized [1-14C]octanoate, [1-14C]palmityl-CoA, and [1,5-14C]glutarate at 20-46% of control levels; MAD:S mitochondria oxidized these three substrates at 0.4-18% of control levels. In MAD:M mitochondria, acyl-CoA dehydrogenase (ADH) activities were similar to control, whereas MAD:S ADH activities ranged from 38% to 73% of control. Electron transfer flavoprotein (ETF) activities in 5 MAD:M cell lines ranged from 29 to 51% of control (P < 0.01); ETF deficiency was the primary enzymatic defect in two MAD:M lines. In 4 MAD:S patients, ETF activities ranged from 3% to 6% of control (P < 0.001); flavin adenine dinucleotide addition increased residual ETF activity from 4% to 21% of control in a single MAD:S line (P < 0.01). Three MAD:S patients had ETF activities ranging from 33 to 53% of control; other investigators found deficient ETF-dehydrogenase activity in these MAD:S and three of our MAD:M cell lines.
Details
- Title: Subtitle
- The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria: mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts
- Creators
- Brad A Amendt - Univ. Iowa, dep. pediatrics, Iowa City IA 52240, United StatesWilliam J Rhead - Univ. Iowa, dep. pediatrics, Iowa City IA 52240, United States
- Resource Type
- Journal article
- Publication Details
- The Journal of clinical investigation, Vol.78(1), pp.205-213
- DOI
- 10.1172/JCI112553
- PMID
- 3722376
- PMCID
- PMC329551
- NLM abbreviation
- J Clin Invest
- ISSN
- 0021-9738
- eISSN
- 1558-8238
- Publisher
- American Society for Clinical Investigation
- Language
- English
- Date published
- 1986
- Academic Unit
- Orthodontics; Anatomy and Cell Biology; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984284327502771
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