A Case of Hyperargininaemia Presenting at Unusually Low Age BD01-BD03
Dr. Vanita Lal,
Associate Professor, Department of Biochemistry, AIIMS, Basni Industrial Area, Phase 2, Jodhpur, Rajasthan, India.
Arginase or ARG1 gene deficiency is a Type V Urea Cycle Disorder (UCD) (catalysing the fifth reaction of urea cycle), associated with hyperammonaemia. Here, we discuss a rare case of a 13-month-old female, having Severe Acute Malnutrition (SAM) and failure to thrive, with serial high plasma ammonia, normal plasma lactate with high arginine and glutamine levels on Amino Acid Assay (AAA) which was performed on 1220 Agilent HPLC. She was admitted for about a month and eventually succumbed to her ailment after a month of discharge.