Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

  title={Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options},
  author={Christian Staufner and Martin Lindner and Carlo Dionisi-Vici and Peter Freisinger and Dries Dobbelaere and Claire Douillard and Nawal Makhseed and Beate Katharina Straub and Kimia Kahrizi and Diana Ballhausen and Giancarlo la Marca and Stefan Koelker and Dorothea Haas and Georg Friedrich Hoffmann and Sarah Catharina Gr{\"u}nert and Henk J. Blom},
  journal={Journal of Inherited Metabolic Disease},
Adenosine kinase deficiency is a recently described defect affecting methionine metabolism with a severe clinical phenotype comprising mainly neurological and hepatic impairment and dysmorphism. Clinical data of 11 additional patients from eight families with adenosine kinase deficiency were gathered through a retrospective questionnaire. Two liver biopsies of one patient were systematically evaluated. The main clinical symptoms are mild to severe liver dysfunction with neonatal onset, muscular… CONTINUE READING
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