Paz José A, Embiruçu Emilia K, Bueno Clarissa, Ferreira Rafaela C C L, Oliveira Fernanda S, Pereira Ane S S, Schwartz Ida V D, Paiva Anderson R B, Lucato Leandro T, Kok Fernando
Child Neurology Unit Children's Institute, University of Sao Paulo School of Medicine Sao Paulo Brazil.
Medical Genetic Service Professor Edgard Santos University Hospital Salvador Brazil.
JIMD Rep. 2021 Sep 30;62(1):49-55. doi: 10.1002/jmd2.12252. eCollection 2021 Nov.
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.
腺苷激酶（ADK）缺乏症是一种非常罕见的甲硫氨酸和腺苷代谢先天性缺陷病。其特征包括发育迟缓、肌张力减退、癫痫、面部畸形、生长发育不良、伴有胆汁淤积的短暂性肝功能障碍、反复低血糖以及心脏缺陷。自2011年确诊以来，仅发表了26例（16个家系）腺苷激酶缺乏症病例。此前从未有过关于该病患者颈动脉硬化异常和脑卒中的报道。在此，我们描述了两名腺苷激酶缺乏症患者，其中一人出现血管迂曲并导致了脑卒中。腺苷激酶缺乏症是一种罕见的甲硫氨酸代谢先天性缺陷病，具有复杂的表型，可能与脑血管异常和脑卒中有关。
