Document Detail


Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.
MedLine Citation:
PMID:  9357925     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A Japanese male neonate died at 13 d of age after presenting at 2 d of age with vomiting, dehydration, metabolic acidosis, liver dysfunction, and terminal rhabdomyolysis with myoglobinuria. Multiple urine organic acid analyses consistently revealed a markedly elevated excretion of lactic acid, 3-hydroxybutyric acid, and saturated and unsaturated C6-C16 dicarboxylic acids, with predominant C12-C16 species. Oxidation of [1-14C]octanoic acid in cultured skin fibroblasts was significantly reduced (0.59 nmol/h/mg of protein; controls, 1.93 +/- 0.65), [1-14C]palmitic acid oxidation was 1.11 nmol/h/mg of protein (controls, 1.63 +/- 0.41). A systematic study of the catalytic activities of nine enzymes of the beta-oxidation cycle using the respective optimal substrate revealed a deficiency of a single enzyme not previously associated with a metabolic disorder, medium chain 3-ketoacyl-CoA thiolase (patient, 3.9 nmol/min/mg protein; controls (n = 6), 10.2 +/- 2.3). Immunoprecipitation with antibodies raised against medium chain 3-ketoacyl-CoA thiolase revealed a 60% decrease compared with controls.
Authors:
T Kamijo; Y Indo; M Souri; T Aoyama; T Hara; S Yamamoto; S Ushikubo; P Rinaldo; I Matsuda; A Komiyama; T Hashimoto
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric research     Volume:  42     ISSN:  0031-3998     ISO Abbreviation:  Pediatr. Res.     Publication Date:  1997 Nov 
Date Detail:
Created Date:  1997-12-09     Completed Date:  1997-12-09     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0100714     Medline TA:  Pediatr Res     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  569-76     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Nagano, Japan.
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MeSH Terms
Descriptor/Qualifier:
Acetyl-CoA C-Acyltransferase / deficiency*
Cells, Cultured
Fatty Acids / metabolism*
Fibroblasts / metabolism
Humans
Immunoblotting
Infant, Newborn
Male
Metabolic Diseases / metabolism*
Mitochondria / metabolism*
Oxidation-Reduction
Substrate Specificity
Chemical
Reg. No./Substance:
0/Fatty Acids; EC 2.3.1.16/Acetyl-CoA C-Acyltransferase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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