Document Detail

Methylmalonic aciduria (cblF): case report and response to therapy.
MedLine Citation:
PMID:  9779804     Owner:  NLM     Status:  MEDLINE    
Methylmalonic acidemia can be secondary to a deficiency of methylmalonyl CoA mutase or to a defect of cobalamin metabolism that is classified by complementation group. We report on a new patient with cblF complementation group that is associated with an elevation of both methylmalonic acid and homocysteine, and her outcome in response to routine therapy and a dietary restriction.
D J Waggoner; K Ueda; C Mantia; S B Dowton
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  79     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1998 Oct 
Date Detail:
Created Date:  1999-06-02     Completed Date:  1999-06-02     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  373-5     Citation Subset:  IM    
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
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MeSH Terms
Amino Acid Metabolism, Inborn Errors / pathology,  therapy
Methylmalonic Acid / urine*
Propionates / metabolism
Vitamin B 12 / metabolism
Reg. No./Substance:
0/Propionates; 516-05-2/Methylmalonic Acid; 68-19-9/Vitamin B 12

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

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