A Rare Genetic Disorder Presenting with Neuropsychiatric Involvement and Drug-Resistant Epilepsy: The First Adult Patient with Adenylosuccinate Lyase Deficiency in Türkiye

Ebru ALTINDAĞ, Betül BAYKAN
2026 Volume: 63 Pages:415-416
TURKISH PDF ENGLISH PDF

Highlights

• Adenylosuccinate lyase (ADSL) deficiency is a rare
metabolic disorder
• Epilepsy is a core feature of the disease.
• The first adult patient with genetically confirmed ADSL
deficiency was presented.


Abstract

Adenylosuccinate lyase (ADSL) deficiency is a rare autosomal recessivemetabolic disorder of the purine biosynthetic pathway caused bymutations in the ADSL gene, located on chromosome 22q13.1-q13.2.1(1). The clinical presentation associated with ADSL deficiency can beextremely heterogeneous and is classified into three main groupsbased on age of onset and clinical severity (neonatal, type I, type II) (2).Epilepsy is a core feature of the disease, characterized by polymorphicand often drug-resistant seizures. Patients typically display commonelectroencephalographic features and evolutionary trajectories (3).Herein, we present the first adult patient with genetically confirmed ADSLdeficiency in our country to raise awareness of this rare disease.