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    
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.
T Kamijo; Y Indo; M Souri; T Aoyama; T Hara; S Yamamoto; S Ushikubo; P Rinaldo; I Matsuda; A Komiyama; T Hashimoto
Related Documents :
3312905 - Labeled oxidation products from [1-14c], [u-14c] and [16-14c]-palmitate in hepatocytes ...
2112625 - Short-term infusion of azelaic acid vs intralipid in healthy subjects evaluated by indi...
4032135 - Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to def...
8442005 - Induction of peroxisomal beta-oxidation by nonsteroidal anti-inflammatory drugs.
5261915 - The genetic code and error transmission.
22111875 - Enantioselective synthesis of branched allylic esters via rhodium-catalyzed coupling of...
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    
Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Nagano, Japan.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Acetyl-CoA C-Acyltransferase / deficiency*
Cells, Cultured
Fatty Acids / metabolism*
Fibroblasts / metabolism
Infant, Newborn
Metabolic Diseases / metabolism*
Mitochondria / metabolism*
Substrate Specificity
Reg. No./Substance:
0/Fatty Acids; EC C-Acyltransferase

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

Previous Document:  Immunologic basis of chronic allergic diseases: clinical messages from the laboratory bench.
Next Document:  Cerebrospinal fluid and plasma total homocysteine and related metabolites in children with cystathio...