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

José A Paz,Fernando Kok,Emilia K Embiruçu,Fernanda S Oliveira,Leandro T Lucato,Ida V D Schwartz,Ane S S Pereira,Clarissa Bueno,Rafaela C C L Ferreira,Anderson R B Paiva

doi:10.1002/jmd2.12252

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.

Highlights

Adenosine kinase deficiency (ADK deficiency, OMIM # 614300) is a very rare autosomal recessive complex inborn error of methionine and adenosine metabolism that has a severe clinical phenotype.[1]
Adenosine is largely metabolized through conversion to adenosine monophosphate (AMP) by ADK
The accumulation of adenosine reverses the S-adenosylhomocysteine hydrolase (SAHH) reaction, which leads to increased levels of S-adenosyl homocysteine (AdoHcy), and impairs the methionine cycle.[1,2]

Summary

CASE REPORT

Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke. Embiruçu2,3 | Clarissa Bueno1,4 | Rafaela C. Lucato7 | Fernando Kok[1,4,8]

| INTRODUCTION

Findings

| DISCUSSION