Indian J Pediatr (September 2013) 80(9):794795 DOI 10.1007/s12098-013-1004-0 SCIENTIFIC LETTER TO THE EDITOR Shilpee Raturi & Iyer Harohalli Venkatesh & N. Karthik Nagesh & Praveen Venkatagiri Received: 14 September 2012 / Accepted: 5 March 2013 / Published online: 29 March 2013 # Dr. K C Chaudhuri Foundation 2013 To the Editor: Argininosuccinate Lyase (ASAL) deficiency is an AR disorder arising as a result of mutations in the ASAL gene. It can manifest as either a severe neonatal onset form with hyperammonemia within the first few days after birth or late onset form . A 4-d-old term girl baby acutely unwell was rushed to pediatric emergency. She was the second child of non consanguinous parents who have a previous healthy boy. Over the last 24 h she had been feeding less well and had become lethargic. In the ER she was brought in a state of shock and unresposiveness. She was resuscitated and shifted to NICU. Arterial blood gas revealed increased anion gap and severe metabolic acidosis which was corrected with IV sodium bicarbonate. The routine blood analysis, chest X-ray and Echo were normal. Serum urea was 8 mg/dL (412 mg/dL), plasma ammonia was 2828 mcg/dL (27112 mcg/dL), and
Indian Journal of Pediatrics – Springer Journals
Published: Sep 1, 2013
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