home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 4069      Small font sizeDefault font sizeIncrease font size Print this page Email this page
Year : 2019  |  Volume : 14  |  Issue : 1  |  Page : 2-6

Hyperargininemia experiences over last 7 years from a tertiary care center

1 Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
2 Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India

Correspondence Address:
Dr. Sadanandavalli Retnaswami Chandra
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru 560029, Karnataka
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/JPN.JPN_1_19

Rights and Permissions

Context: Several Enzymes carry out chemical reactions for the production of energy and carrying out normal functioning of the organism. Disorders of these functions can result in permanent damage to the child affecting multiple systems. Most metabolic disorders are at least controllable and therefore it is important to recognize them early for ensuring optimum growth and development. This involves proper pattern recognition by the clinician. Aims: In this study we are discussing a rare treatable metabolic disorder namely Hyperargininemia seen by the authors in the last seven years. Settings and Design: Various parameters of confirmed hyperargininemia patients were analysed. Methods and Material: It is a descriptive study where all patients were confirmed cases with red blood cell arginase levels <10. Statistical Analysis used: Descriptive statistical analysis, Mann-whitney test, spearman’s rho. Results: In this study we found consanguinity in 30 % of patients. At least one sibling was affected in 13 % of patients. Females were more in this group though the pattern remains AR. Symptom onset showed variability from less than 1 year to up to 17 years. Commonest clinical feature was cognitive dysfunction, spasticity, seizures, microcephaly and lesser number with extrapyramidal and cerebellar features. Failure to thrive and dysmorphic features were also seen. Conclusion: Hyperargininemia commonly manifests as regression, failure to thrive, spasticity, seizures with or without microcephaly. When the above phenotype is seen, it is mandatory to screen for urea cycle disorders.


Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded85    
    Comments [Add]    
    Cited by others 4    

Recommend this journal