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...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-11-01
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| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.12252 |
| _version_ | 1819041115330838528 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-21T09:19:52Z |
| format | Article |
| id | doaj.art-a2caa55d6d714e1c919822fa5a5b3b22 |
| institution | Directory Open Access Journal |
| issn | 2192-8312 |
| language | English |
| last_indexed | 2024-12-21T09:19:52Z |
| publishDate | 2021-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | JIMD Reports |
| spelling | doaj.art-a2caa55d6d714e1c919822fa5a5b3b222022-12-21T19:09:03ZengWileyJIMD Reports2192-83122021-11-01621495510.1002/jmd2.12252Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent strokeJosé A. Paz0Emilia K. Embiruçu1Clarissa Bueno2Rafaela C. C. L. Ferreira3Fernanda S. Oliveira4Ane S. S. Pereira5Ida V. D. Schwartz6Anderson R. B. Paiva7Leandro T. Lucato8Fernando Kok9Child Neurology Unit Children's Institute, University of Sao Paulo School of Medicine Sao Paulo BrazilMedical Genetic Service Professor Edgard Santos University Hospital Salvador BrazilChild Neurology Unit Children's Institute, University of Sao Paulo School of Medicine Sao Paulo BrazilChild Neurology Service, Department of Neurology University of Sao Paulo School of Medicine Sao Paulo BrazilMedical Genetic Service Professor Edgard Santos University Hospital Salvador BrazilMedical Genetic Service Professor Edgard Santos University Hospital Salvador BrazilChild Neurology Service, Department of Neurology University of Sao Paulo School of Medicine Sao Paulo BrazilNeurogenetics Unit, Department of Neurology University of Sao Paulo School of Medicine Sao Paulo BrazilDepartment of Radiology University of Sao Paulo School of Medicine Sao Paulo BrazilChild Neurology Unit Children's Institute, University of Sao Paulo School of Medicine Sao Paulo BrazilAbstract 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.https://doi.org/10.1002/jmd2.12252adenosine kinase deficiencyadenosine metabolismmethionine metabolismstroke |
| spellingShingle | 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 JIMD Reports adenosine kinase deficiency adenosine metabolism methionine metabolism stroke |
| title | 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_short | 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 |
| topic | adenosine kinase deficiency adenosine metabolism methionine metabolism stroke |
| url | https://doi.org/10.1002/jmd2.12252 |
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