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Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation

  • P. PhowthongkumEmail author
  • C. Ittiwut
  • V. Shotelersuk
Research Report
Part of the JIMD Reports book series (JIMD, volume 41)

Abstract

Background: Carnitine palmitoyltransferase II (CPTII) deficiency is a mitochondrial fatty acid oxidation disorder that can present antenatally as congenital brain malformations, or postnatally with lethal neonatal, severe infantile, or the most common adult myopathic forms. No case of severe hyperammonemia without liver dysfunction has been reported.

Case Presentation: We described a 23-year-old man who presented to the emergency department with seizures and was found to have markedly elevation of serum ammonia. Continuous renal replacement therapy was initiated with successfully decreased ammonia to a safety level. He had a prolonged history of epilepsies and encephalopathic attacks that was associated with high ammonia level. Molecular diagnosis revealed a homozygous mutation in CPTII. The plasma acylcarnitine profile was consistent with the diagnosis. Failure to produce acetyl-CoA, the precursor of urea cycle from fatty acid in prolonged fasting state in Ramadan month, worsening mitochondrial functions from circulating long chain fatty acid and valproate toxicities were believed to contribute to this critical metabolic decompensation.

Conclusion: Fatty acid oxidation disorders should be considered in the differential diagnosis of hyperammonemia even without liver dysfunction. To our knowledge, this is the first case of CPTII deficiency presented with severe hyperammonemic encephalopathy required dialysis after prolonged religious related fasting.

Keywords

Carnitine palmitoyltransferase CPTII deficiency Fatty acid oxidation disorder Hyperammonemia Long chain fatty acid Rhabdomyolysis 

Notes

Acknowledgments

This study was supported by the Chulalongkorn Academic Advancement into Its 2nd Century Project.

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Copyright information

© Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017

Authors and Affiliations

  1. 1.Division of Medical Genetics and Genomics, Department of Medicine, Faculty of MedicineChulalongkorn UniversityBangkokThailand
  2. 2.Medical Genetics CenterKing Chulalongkorn Memorial Hospital, The Thai Red Cross SocietyBangkokThailand
  3. 3.Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of MedicineChulalongkorn UniversityBangkokThailand
  4. 4.Excellence Center for Medical GeneticsKing Chulalongkorn Memorial Hospital, The Thai Red Cross SocietyBangkokThailand

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