Document Detail

Molybdenum cofactor deficiency.
MedLine Citation:
PMID:  8410516     Owner:  NLM     Status:  MEDLINE    
We describe a new case of molybdenum cofactor deficiency, an underrecognized inborn error of metabolism that results in neonatal seizures and neurologic abnormalities. Characteristic biochemical defects in affected individuals include hypouricemia, elevated urine sulfate (detectable by dipstick), and elevated S-sulfocysteine (detectable by anion exchange chromatography). This disorder should be considered in the differential diagnosis of neonatal seizures.
G L Arnold; C L Greene; J P Stout; S I Goodman
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  123     ISSN:  0022-3476     ISO Abbreviation:  J. Pediatr.     Publication Date:  1993 Oct 
Date Detail:
Created Date:  1993-11-04     Completed Date:  1993-11-04     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  595-8     Citation Subset:  AIM; IM    
Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock 72205.
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MeSH Terms
Coenzymes / deficiency*
Genes, Recessive
Infant, Newborn
Metabolism, Inborn Errors / diagnosis*,  genetics
Metalloproteins / metabolism*
Molybdenum / metabolism*
Pteridines / metabolism*
Seizures / etiology*
Grant Support
MCJ-00252//PHS HHS
Reg. No./Substance:
0/Coenzymes; 0/Metalloproteins; 0/Pteridines; 73508-07-3/molybdenum cofactor; 7439-98-7/Molybdenum

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