Document Detail

Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation.
MedLine Citation:
PMID:  10347277     Owner:  NLM     Status:  MEDLINE    
This report describes the clinical, biochemical, and pathological findings in three infants with hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase (SCHAD) deficiency, a recently recognized disorder of the mitochondrial oxidation of straight-chain fatty acids. Candidate subjects were identified from an ongoing study of infant deaths. SCHAD analysis was performed on previously frozen liver and skeletal muscle on subjects with a characteristic urine organic acid profile. Autopsy findings were correlated with the biochemical abnormalities. Enzyme analysis in liver revealed marked deficiency in SCHAD with residual activities of 3-11%. All subjects had normal activity in skeletal muscle. However, Western blot analysis of SCHAD revealed an identical truncated protein in both liver and muscle from one patient, suggesting that SCHAD is similar in liver and muscle and that the normal activity in muscle may be due to other enzymes with C4 activity. Autopsy findings revealed marked steatosis and a muscle pattern consistent with spinal muscular atrophy in one patient. Lipid storage was less pronounced in one patient and not detected in the third patient who had a well-documented history of recurrent hypoglycemia. This is the initial pathological characterization of this enzyme defect, and our observations suggest that SCHAD deficiency is a very severe disorder contributing to early infant death.
M J Bennett; S D Spotswood; K F Ross; S Comfort; R Koonce; R L Boriack; L IJlst; R J Wanders
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society     Volume:  2     ISSN:  1093-5266     ISO Abbreviation:  Pediatr. Dev. Pathol.     Publication Date:    1999 Jul-Aug
Date Detail:
Created Date:  1999-07-16     Completed Date:  1999-07-16     Revised Date:  2006-05-08    
Medline Journal Info:
Nlm Unique ID:  9809673     Medline TA:  Pediatr Dev Pathol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  337-45     Citation Subset:  IM    
Department of Pathology, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75235, USA.
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MeSH Terms
3-Hydroxyacyl CoA Dehydrogenases / deficiency*,  metabolism
3-Hydroxybutyric Acid / metabolism*
Blotting, Western
Fatal Outcome
Liver / enzymology*,  pathology
Mitochondria, Liver / enzymology*
Muscle, Skeletal / enzymology,  pathology
Spinal Muscular Atrophies of Childhood / enzymology,  pathology
Thymus Gland / pathology
Reg. No./Substance:
300-85-6/3-Hydroxybutyric Acid; EC CoA Dehydrogenases

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

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