A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

• Main Authors: Marina Macchiaiolo (Author), Sabina Barresi (Author), Francesco Cecconi (Author), Ginevra Zanni (Author), Marcello Niceta (Author), Emanuele Bellacchio (Author), Giacomo Lazzarino (Author), Angela Maria Amorini (Author), Enrico Silvio Bertini (Author), Salvatore Rizza (Author), Benedetta Contardi (Author), Marco Tartaglia (Author), Andrea Bartuli (Author)
• Format: Book
• Published: BMC, 2017-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Adenylosuccinate lyase (ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways. The disorder shows a wide spectrum of symptoms from slowly to rapidly...