Document Detail


Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions.
MedLine Citation:
PMID:  8355818     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Intractable seizures in the neonatal period may be caused by molybdenum-cofactor deficiency, an inborn error which combines the deficiencies of sulphite oxidase and xanthine dehydrogenase. The neurological symptoms of molybdenum cofactor and isolated sulphite oxidase deficiencies are identical. Two new cases are reported, and the literature on neonatal convulsions due to molybdenum-cofactor and sulphite deficiencies is reviewed. Because of the high incidence of neonatal convulsions a search for this deficiency is advocated in each case of unexplained refractory neonatal convulsions. Diagnosis may be missed or delayed on standard metabolic screening for several reasons discussed. By simply using a sulphite strip test in a fresh urine sample an indication for the defect can be obtained. Antenatal diagnosis can be performed by assay of sulphite oxidase activity in a chorionic villus sample.
Authors:
H M Slot; W C Overweg-Plandsoen; H D Bakker; N G Abeling; P Tamminga; P G Barth; A H Van Gennip
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Neuropediatrics     Volume:  24     ISSN:  0174-304X     ISO Abbreviation:  Neuropediatrics     Publication Date:  1993 Jun 
Date Detail:
Created Date:  1993-09-21     Completed Date:  1993-09-21     Revised Date:  2008-01-16    
Medline Journal Info:
Nlm Unique ID:  8101187     Medline TA:  Neuropediatrics     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  139-42     Citation Subset:  IM    
Affiliation:
Academic Medical Center, Department of Neonatology, Amsterdam, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Amino Acids / analysis
Brain / metabolism,  physiopathology,  radiography
Brain Diseases / diagnosis,  metabolism,  physiopathology
Calcinosis / metabolism,  physiopathology
Chorionic Villi Sampling
Coenzymes*
Female
Humans
Infant, Newborn
Male
Metabolic Diseases / complications
Metalloproteins / metabolism*
Molybdenum / deficiency*
Oxidoreductases Acting on Sulfur Group Donors / deficiency,  metabolism
Pregnancy
Prenatal Diagnosis*
Prognosis
Pteridines / metabolism*
Spasms, Infantile / diagnosis*,  etiology,  metabolism
Tomography, X-Ray Computed
Xanthine Dehydrogenase / deficiency,  metabolism
Chemical
Reg. No./Substance:
0/Amino Acids; 0/Coenzymes; 0/Metalloproteins; 0/Pteridines; 73508-07-3/molybdenum cofactor; 7439-98-7/Molybdenum; EC 1.17.1.4/Xanthine Dehydrogenase; EC 1.8.-/Oxidoreductases Acting on Sulfur Group Donors

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


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