Journal article
Short-chain acyl-coenzyme A dehydrogenase deficiency: clinical and biochemical studies in two patients
The Journal of clinical investigation, Vol.79(5), pp.1303-1308
1987
DOI: 10.1172/JCI112953
PMCID: PMC424368
PMID: 3571488
Abstract
We describe two patients with short-chain acyl-coenzyme A (CoA) dehydrogenase (SCADH) deficiency. Neonate I excreted large amounts of ethylmalonate and methylsuccinate; ethylmalonate excretion increased after a medium-chain triglyceride load. Neonate II died postnatally and excreted ethylmalonate, butyrate, 3-hydroxybutyrate, adipate, and lactate. Both neonates' fibroblasts catabolized [1-14C]butyrate poorly (29-64% of control). Neonate I had moderately decreased [1-14C]octanoate catabolism (43-60% of control), while neonate II oxidized this substrate normally; both catabolized radiolabeled palmitate, succinate, and/or leucine normally. Cell sonicates from neonates I and II dehydrogenated [2,3-3H]butyryl-CoA poorly (41 and 53% of control) and [2,3-3H]octanoyl-CoA more effectively (59 and 95% of control). Mitochrondrial acyl-CoA dehydrogenase (ADH) activities with butyryl- and octanoyl-CoAs were 37 and 56% of control in neonate I, and 47 and 81% of control in neonate II, respectively. Monospecific medium-chain ADH (MCADH) antisera inhibited MCADH activity towards both butyryl- and octanoyl-CoAs, revealing SCADH activities to be 1 and 11% of control for neonates I and II, respectively. Fibroblast SCADH and MCADH activities were normal in an adult female with muscular SCADH deficiency.
Details
- Title: Subtitle
- Short-chain acyl-coenzyme A dehydrogenase deficiency: clinical and biochemical studies in two patients
- Creators
- Brad A Amendt - University of IowaCarol Greene - Tulane UniversityLarry Sweetman - University of California San DiegoJohn Cloherty - Harvard Medical SchoolVivian Shih - Harvard Medical SchoolAnne Moon - Univ. Iowa, dep. pediatrics, Iowa City 52242, United StatesLisa Teel - Univ. Iowa, dep. pediatrics, Iowa City 52242, United StatesWilliam J Rhead - Univ. Iowa, dep. pediatrics, Iowa City 52242, United States
- Resource Type
- Journal article
- Publication Details
- The Journal of clinical investigation, Vol.79(5), pp.1303-1308
- DOI
- 10.1172/JCI112953
- PMID
- 3571488
- PMCID
- PMC424368
- NLM abbreviation
- J Clin Invest
- ISSN
- 0021-9738
- eISSN
- 1558-8238
- Publisher
- American Society for Clinical Investigation
- Language
- English
- Date published
- 1987
- Academic Unit
- Orthodontics; Anatomy and Cell Biology; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984284340002771
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