Document Detail


Molybdenum cofactor deficiency.
MedLine Citation:
PMID:  8410516     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
G L Arnold; C L Greene; J P Stout; S I Goodman
Related Documents :
22974376 - Birth prevalence and characteristics of congenital toxoplasmosis in sergipe, north-east...
24172676 - Is it worthwhile to routinely ultrasound screen children with idiopathic clubfoot for h...
11848106 - Prognostic value of positron emission tomography in cryptogenic west syndrome.
14643396 - Wavelet analysis for neonatal electroencephalographic seizures.
9156866 - Lower gastrointestinal tract perforation in preterm infants treated with dexamethasone ...
20022416 - Delivery room resuscitation of near-term infants: role of the laryngeal mask airway.
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    
Affiliation:
Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock 72205.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Coenzymes / deficiency*
Female
Genes, Recessive
Humans
Infant, Newborn
Metabolism, Inborn Errors / diagnosis*,  genetics
Metalloproteins / metabolism*
Molybdenum / metabolism*
Pteridines / metabolism*
Seizures / etiology*
Grant Support
ID/Acronym/Agency:
MCJ-00252//PHS HHS
Chemical
Reg. No./Substance:
0/Coenzymes; 0/Metalloproteins; 0/Pteridines; 73508-07-3/molybdenum cofactor; 7439-98-7/Molybdenum

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


Previous Document:  Infant feeding and idiopathic intussusception.
Next Document:  Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son wit...