Article
Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.
Molecular genetics and metabolism - 1 Jan 2021
Becker Pierre-Hadrien, Demir Zeynep, Mozer Glassberg Yael, Sevin Caroline, Habes Dalila, Imbard Apolline, Mussini Charlotte, Rozenfeld Bar Lev Michal, Davit-Spraul Anne, Benoist Jean-François, Thérond Patrice, Slama Abdelhamid, Jacquemin Emmanuel, Gonzales Emmanuel, Gaignard Pauline
Abstract excerpt
Adenosine kinase (ADK) deficiency is characterized by liver disease, dysmorphic features, epilepsy and developmental delay. This defect disrupts the adenosine/AMP futile cycle and interferes with the upstream methionine cycle. We report the clinical, histological and biochemical courses of three ADK children carrying two new mutations and presenting with neonatal cholestasis and neurological disorders. One of...
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