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Argininemia presenting with progressive spastic diplegia.
MedLine Citation:
PMID:  21310339     Owner:  NLM     Status:  In-Data-Review    
Argininemia is caused by a deficiency of arginase 1, which catalyzes the final step in the urea cycle, i.e., the cytosolic hydrolysis of arginine to ornithine and urea. In contrast to other urea cycle disorders, hyperammonemic encephalopathy is rarely observed in patients with argininemia. Rather, most exhibit an insidious onset and progression of neurologic manifestations, including spastic diplegia. We describe the first Korean patient with argininemia, manifesting as slowly progressive spastic diplegia. Our patient carries c.[32T>C] + [913G>A] (p.[Ile11Thr] + [Gly305Arg]) mutations in the ARG1 gene. The latter mutation was not previously reported. Although argininemia is a very rare disease, it is recognized as a pan-ethnic disorder. We conclude that argininemia should be considered more frequently in the differential diagnosis of a patient with slowly progressive neurologic manifestations, especially progressive spastic diplegia, even in a population where argininemia was previously unknown.
Beom Hee Lee; Hye Young Jin; Gu-Hwan Kim; Jin-Ho Choi; Han-Wook Yoo
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  44     ISSN:  1873-5150     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-02-11     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  218-20     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Elsevier Inc. All rights reserved.
Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea; Medical Genetics Clinic and Laboratory, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
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