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

Abstract 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 def...

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Autores principales:	José A. Paz, Emilia K. Embiruçu, Clarissa Bueno, Rafaela C. C. L. Ferreira, Fernanda S. Oliveira, Ane S. S. Pereira, Ida V. D. Schwartz, Anderson R. B. Paiva, Leandro T. Lucato, Fernando Kok
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	adenosine kinase deficiency adenosine metabolism methionine metabolism stroke Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/a2caa55d6d714e1c919822fa5a5b3b22
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spelling	oai:doaj.org-article:a2caa55d6d714e1c919822fa5a5b3b222021-11-08T13:27:18ZAdenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke2192-831210.1002/jmd2.12252https://doaj.org/article/a2caa55d6d714e1c919822fa5a5b3b222021-11-01T00:00:00Zhttps://doi.org/10.1002/jmd2.12252https://doaj.org/toc/2192-8312Abstract 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.José A. PazEmilia K. EmbiruçuClarissa BuenoRafaela C. C. L. FerreiraFernanda S. OliveiraAne S. S. PereiraIda V. D. SchwartzAnderson R. B. PaivaLeandro T. LucatoFernando KokWileyarticleadenosine kinase deficiencyadenosine metabolismmethionine metabolismstrokeDiseases of the endocrine glands. Clinical endocrinologyRC648-665GeneticsQH426-470ENJIMD Reports, Vol 62, Iss 1, Pp 49-55 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	adenosine kinase deficiency adenosine metabolism methionine metabolism stroke Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
spellingShingle	adenosine kinase deficiency adenosine metabolism methionine metabolism stroke Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470 José A. Paz Emilia K. Embiruçu Clarissa Bueno Rafaela C. C. L. Ferreira Fernanda S. Oliveira Ane S. S. Pereira Ida V. D. Schwartz Anderson R. B. Paiva Leandro T. Lucato Fernando Kok Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke
description	Abstract 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.
format	article
author	José A. Paz Emilia K. Embiruçu Clarissa Bueno Rafaela C. C. L. Ferreira Fernanda S. Oliveira Ane S. S. Pereira Ida V. D. Schwartz Anderson R. B. Paiva Leandro T. Lucato Fernando Kok
author_facet	José A. Paz Emilia K. Embiruçu Clarissa Bueno Rafaela C. C. L. Ferreira Fernanda S. Oliveira Ane S. S. Pereira Ida V. D. Schwartz Anderson R. B. Paiva Leandro T. Lucato Fernando Kok
author_sort	José A. Paz
title	Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke
title_short	Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke
title_full	Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke
title_fullStr	Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke
title_full_unstemmed	Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke
title_sort	adenosine kinase deficiency presenting with tortuous cervical arteries: a risk factor for recurrent stroke
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/a2caa55d6d714e1c919822fa5a5b3b22
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Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke

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