Use of Continuous Hemodiafiltration for the Treatment of a Neonate with Hyperammonemia Secondary to Argininosuccinate Lyase (ASAL) Deficiency

Use of Continuous Hemodiafiltration for the Treatment of a Neonate with Hyperammonemia Secondary... 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 [1]. 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 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Indian Journal of Pediatrics Springer Journals

Use of Continuous Hemodiafiltration for the Treatment of a Neonate with Hyperammonemia Secondary to Argininosuccinate Lyase (ASAL) Deficiency

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Publisher
Springer Journals
Copyright
Copyright © 2013 by Dr. K C Chaudhuri Foundation
Subject
Medicine & Public Health; Pediatrics; Gynecology
ISSN
0019-5456
eISSN
0973-7693
D.O.I.
10.1007/s12098-013-1004-0
Publisher site
See Article on Publisher Site

Abstract

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 [1]. 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

Journal

Indian Journal of PediatricsSpringer Journals

Published: Sep 1, 2013

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