PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?

  • D. ComanEmail author
  • P. Lewindon
  • P. Clayton
  • K. Riney
Case Report
Part of the JIMD Reports book series (JIMD, volume 25)


We report the case of a 4-year-old boy with pyridoxamine 5-phosphate oxidase deficiency, now the second reported case to develop hepatic cirrhosis. He presented with an encephalopathy in the first 1.5 h of life and received a first dose of PLP at 40 h of life. PNPO gene sequencing identified homozygosity for a novel variant in exon 7, c.637C>T (p.Pro213Ser). Persistent elevations in alanine transferase and aspartate transferase combined with an echogenic liver on ultrasound prompted performance of a liver biopsy which demonstrated hepatic cirrhosis. This is the second reported case of hepatic cirrhosis in PNPO deficiency. The pathogenesis is unclear but may be related to epigenetic activation of purinergic signaling in the hepatic stellate cells. PNPO deficiency may in time prove to be a suitable candidate for consideration of therapeutic orthotropic liver transplantation in select patients.


Orthotopic Liver Transplantation Hepatic Stellate Cell Glycogen Storage Disease Hepatic Cirrhosis Liver Stiffness Measure 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • D. Coman
    • 1
    • 2
    • 3
    Email author
  • P. Lewindon
    • 2
    • 4
  • P. Clayton
    • 5
  • K. Riney
    • 1
    • 2
  1. 1.Neuroscience DepartmentThe Lady Cilento Children’s HospitalBrisbaneAustralia
  2. 2.School of MedicineThe University of QueenslandBrisbaneAustralia
  3. 3.School of MedicineGriffith UniversityGold CoastAustralia
  4. 4.Gastroenterology DepartmentThe Lady Cilento Children’s HospitalBrisbaneAustralia
  5. 5.UCL Institute of Child HealthLondonUK

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