Ontology highlight
ABSTRACT:
SUBMITTER: Macchiaiolo M
PROVIDER: S-EPMC5541734 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Macchiaiolo Marina M Barresi Sabina S Cecconi Francesco F Zanni Ginevra G Niceta Marcello M Bellacchio Emanuele E Lazzarino Giacomo G Amorini Angela Maria AM Bertini Enrico Silvio ES Rizza Salvatore S Contardi Benedetta B Tartaglia Marco M Bartuli Andrea A
Italian journal of pediatrics 20170802 1
<h4>Background</h4>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 progressing forms. The most severe form is characterized by neonatal encephalopathy, absence of spontaneous movement, respiratory failure, intractable seizures, and early death within the first weeks o ...[more]