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BIBTEX RIS

Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke

2021; Wiley; Volume: 62; Issue: 1 Linguagem: Inglês

10.1002/jmd2.12252

2192-8312

José Albino da Paz, Emília Katiane Embiruçu, Clarissa Bueno, Rafaela Chaves Costa Lobo Ferreira, Fernanda Santos de Oliveira, Ane S. S. Pereira, Ida Vanessa Döederlein Schwartz, Anderson Rodrigues Brandão de Paiva, Leandro Tavares Lucato, Fernando Kok,

Folate and B Vitamins Research

Adenosine kinase (ADK) deficiency is a very rare inborn error of methionine and adenosine metabolism. It is characterized by developmental delay, hypotonia, epilepsy, facial dysmorphism, failure to thrive, transient liver dysfunction with cholestasis, recurrent hypoglycemia, and cardiac defects. Only 26 cases (16 families) of ADK deficiency have been published since its identification in 2011. Vascular abnormalities in cervical arteries and cerebral stroke have never been reported in this condition. Here, we describe two patients with ADK deficiency and vascular tortuosity leading to stroke in one of them. ADK deficiency is a rare inborn error of methionine metabolism with a complex phenotype that might be associated with cerebrovascular abnormalities and stroke.