Document Detail

Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapy.
MedLine Citation:
PMID:  3921755     Owner:  NLM     Status:  MEDLINE    
Argininosuccinic aciduria, due to deficiency of argininosuccinic acid lyase, is generally associated with severe neonatal hyperammonaemia and its neurological sequelae. The cases of two siblings with this autosomal recessive disorder are presented. Both infants were preterm and delivered by Caesarean section for maternal pre-eclampsia. The first infant was not diagnosed until after the development of severe hyperammonaemia and, despite adequate treatment with haemodialysis and arginine infusion, remained comatose for a prolonged period. At 20 months she has profound developmental delays and intellectual impairment. The second infant, whose diagnosis was made antenatally by amniotic fluid analysis, was treated with arginine infusion beginning at 32 h of life and never developed hyperammonaemia. We conclude that early recognition and prompt institution of arginine therapy is an effective regimen for the prevention of neonatal hyperammonaemia in argininosuccinic aciduria.
S M Donn; J G Thoene
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  8     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  1985  
Date Detail:
Created Date:  1985-06-17     Completed Date:  1985-06-17     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  18-20     Citation Subset:  IM    
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MeSH Terms
Amino Acid Metabolism, Inborn Errors / blood,  genetics,  therapy*
Ammonia / blood*
Arginine / analogs & derivatives*,  therapeutic use*
Argininosuccinic Acid / urine*
Argininosuccinic Aciduria
Infant, Newborn
Prenatal Diagnosis
Reg. No./Substance:
2387-71-5/Argininosuccinic Acid; 74-79-3/Arginine; 7664-41-7/Ammonia

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

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