Document Detail

Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children.
MedLine Citation:
PMID:  21329179     Owner:  NLM     Status:  In-Process    
Argininosuccinic aciduria is an inborn error of the urea cycle caused by deficiency of argininosuccinate lyase (ASL). ASL-deficient patients present with progressive intoxication due to accumulation of ammonia in the body. Early diagnosis and treatment of hyperammonemia are necessary to improve survival and prevent long-term handicap. Two clinical phenotypes have been recognized--neonatal acute and milder late-onset form. We investigated patients with hyperammonemia by a stepwise approach in which quantitative amino acids analysis was the core diagnostic procedure. Here, we describe the clinical phenotypes and biochemical characteristics in diagnosing this group of patients. We have identified 13 patients with argininosuccinic aciduria from 2003 till 2009. Ten patients who presented with acute neonatal hyperammonemic encephalopathy had markedly elevated blood ammonia (> 430 micromol/L) within the first few days of life. Three patients with late-onset disease had more subtle clinical presentations and they developed hyperammonemia only during the acute catabolic state at two to twelve months of age. Their blood ammonia was mild to moderately elevated (> 75-265 micromol/L). The diagnosis was confirmed by detection of excessive levels of argininosuccinate in the urine and/or plasma. They also have moderately increased levels of citrulline and, low levels of arginine and ornithine in their plasma. Two patients succumbed to the disease. To date, eleven patients remained well on a dietary protein restriction, oral ammonia scavenging drugs and arginine supplementation. The majority of them have a reasonable good neurological outcome.
Bee Chin Chen; Lock Hock Ngu; Md Yunus Zabedah
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Malaysian journal of pathology     Volume:  32     ISSN:  0126-8635     ISO Abbreviation:  Malays J Pathol     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2011-02-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8101177     Medline TA:  Malays J Pathol     Country:  Malaysia    
Other Details:
Languages:  eng     Pagination:  87-95     Citation Subset:  IM    
Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.
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