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Case Report
 
Carbamoyl phosphate synthetase 1 deficiency: First report of this rare metabolic disorder in Kingdom of Bahrain with novel mutation
 
Z. Alsahlawi1, E. Aljishi2, M. Aljufairi3, H. Naser4, J. Häberle5
 
1Pediatric and Metabolic Disease, Medical Genetics Specialist, PO Box 12- Samlmaniya Medical Hospital Hospital, Pediatric Department, Kingdom of Bahrain
2Pediatric and Metabolic Disease Consultant, Pediatric Department, Salmaniya Medical Complex, Manama – Kingdom of Bahrain
3Pediatric Consultant and Neonatologist – Pediatric Department – Salmaniya Medical Complex – Manama – Kingdom of Bahrain
4Pediatric Intern - Pediatric Department – Salmaniya Medical Complex – Manama – Kingdom of Bahrain
5University Children’s Hospital Zurich, Division of Metabolism and Children’s Research Center, 8032 Zurich, Switzerland

Article ID: 100044CRINTZA2018
doi: 10.5348/crint-2018-44-CR

Corresponding Author:
Dr. Zahra Alsahlawi,
Pediatric and Metabolic Disease,
Medical Genetics Specialist,
PO Box 12- Samlmaniya Medical Hospital Hospital,
Pediatric Department, Kingdom of Bahrain

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How to cite this article
Alsahlawi Z, Aljishi E, Aljufairi M, Naser H, Häberle J. Carbamoyl phosphate synthetase 1 deficiency: First report of this rare metabolic disorder in Kingdom of Bahrain with novel mutation. Case Rep Int 2018;7:100044CRINTZA2018.


ABSTRACT
Introduction: Carbamoyl phosphate synthetase 1 (CPS1) is the first enzyme of the urea cycle, which is the pathway responsible for excess nitrogen detoxification and arginine synthesis. Deficiency of CPS1 will cause severe hyperammonemia often already on the first few days after birth. The majority of patients with CPS1 deficiency have a neonatal presentation with encephalopathy and lethargy due to severe hyperammonemia. These patients usually require intensive care treatment with nitrogen scavenging medication and hemodialysis but despite this, the outcome of these cases is guarded.
Case Report: Here we report the first case of CPS1 deficiency in a newborn Bahraini girl who was manifesting on the 3rd day of life with encephalopathy, seizures, and hyperammonemia. She was treated with nitrogen scavenging medication and peritoneal dialysis leading to a decrease of the ammonia level. After starting carglumic acid (Carbaglu), which is the allosteric activator of the urea cycle, the metabolic situation was further improved. Unfortunately, the patient had already sustained severe neurological sequelae and expired after one month. Her diagnosis of a defect in CPS1 was suspected based on the biochemical profile and finally confirmed with the finding of a novel mutation in the CPS1 gene.
Conclusion: Hyperammonemia is an acute metabolic emergency and often caused by a UCD that should always be part of the differential diagnosis. We report here the first CPS1 deficiency case, confirmed genetically, in Bahrain with novel mutation.

Keywords: Carbamoyl phosphate synthetase 1 deficiency, Urea cycle defect, Hyperammonemia


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Author Contributions
Z. Alsahlawi – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
E. Aljishi – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
M. Aljufairi – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
H. Naser – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
J. Häberle – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guarantor of Submission
The corresponding author is the guarantor of submission.
Source of Support
None
Conflict of Interest
Authors declare no conflict of interest.
Copyright
© 2018 Z. Alsahlawi et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.


ABOUT THE AUTHORS

Johannes Häberle is a Senior Metabolic Consultant and Head of the Metabolic Laboratory at the University Children’s Hospital Zurich, Zurich, Switzerland. He has published more than 100 research papers in national and international academic journals and authored six book chapters on urea cycle disorders. His research interests include the molecular background of urea cycle disorders and the development of novel therapeutic approaches.


Zahra Alsahlawi is a Consultant at Pediatric Department, Salmaniya Medical Complex, Arabian Gulf University, Manama, Kingdom of Bahrain. She earned undergraduate degree (MD) from Qaser Alaini, Cairo University, Cairo, Egypt and postgraduate degree (Fellowship in medical genetics and metabolic disorders) from Medical Genetics Department, King Faisal Specialist Hospital and Research Center, King Faisal University, Riyadh, Saudia Arabia. She has published three research papers in national and international academic journals and authored one book. Her research interests include inborn error of metabolism and clinical genetics.


Emtethal Aljishi is a Consultant at Pediatric Department, Salmaniya Medical Complex, University, Manama, Kingdom of Bahrain. She earned undergraduate degree (MD) from King Faisal University, Riyadh, Saudia Arabia and postgraduate degree (fellowship of inborn error of metabolism) from King Faisal Specialist Hospital, University, Riyadh, Saudia Arabia. She has published 14 research papers in national and international academic journals. Her research interests include inborn error of metabolism.


Mona Aljufairi is a Consultant at Pediatric Department, Salmaniya Medical Complex, University, Manama, Kingdom of Bahrain. She earned the undergraduate degree (MD) from King Faisal University, Riyadh, Saudia Arabia and postgraduate degree (fellowship in neonatology) from Pediatric Department, King Faisal Specialist Hospital, University, Riyadh, Saudia Arabia. Her research interest includes neonatology.


Huda Naser is Resident at Family Medicine Department, Salmaniya medical complex, Manama, Kingdom of Bahrain. She earned undergraduate degree (Bachelor of medicine and surgery) from Royal College of Surgeons University, Irelad, Bahrain. Her research interest includes family medicine.