Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights

• Main Authors: Patryk Lipiński (Author), Elżbieta Ciara (Author), Dorota Jurkiewicz (Author), Maciej Pronicki (Author), Elżbieta Jurkiewicz (Author), Anna Bogdańska (Author), Rafał Płoski (Author), Irena Jankowska (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Adenosine kinase (ADK) deficiency is a rare inborn error of methionine and adenosine metabolism. So far, a total of 27 patients with ADK deficiency have been reported. Here, we describe the first Polish patient diagnosed with ADK deficiency, aiming to highlight the clinical presentation of disease,...