Case report: Hepatocellular carcinoma in a patient with Pyridoxamine 5-phosphate oxidase (PNPO) deficiency undergoing pyridoxal 5-phosphate (PLP) treatment

Case report: Hepatocellular carcinoma in a patient with Pyridoxamine 5-phosphate oxidase (PNPO) deficiency undergoing pyridoxal 5-phosphate (PLP) treatment

Pyridoxamine 5-phosphate oxidase (PNPO) deficiency is an autosomal recessive inborn error of metabolism that typically manifests as seizures resistant to conventional anticonvulsants, often presenting in the neonatal period to early infancy. One of the main treatments, pyridoxal 5-phosphate (PLP), c...

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Bibliographic Details
Main Authors: Jesse Zhen Cheng Lee, Chit Kwong Chow, Cheuk-Wing Fung, Stephen Tak Yau Lui, Suet-Na Sheila Wong
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Pyridoxamine 5-phosphate oxidase
PNPO deficiency
Pyridoxal 5-phosphate
PLP
Pyridoxine
HCC
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000394
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