Abstract
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.