Ontology highlight
ABSTRACT:
SUBMITTER: Macchiaiolo M
PROVIDER: S-EPMC7210596 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Macchiaiolo Marina M Buonuomo Paola Sabrina PS Mastrogiorgio Gerarda G Bordi Matteo M Testa Beatrice B Weber Gerrit G Bellacchio Emanuele E Tartaglia Marco M Cecconi Francesco F Bartuli Andrea A
Molecular genetics and metabolism reports 20200506
Adenylosuccinate lyase deficiency is a rare neurometabolic recessive disorder of purine metabolism characterized by a wide range of clinical manifestations. We present a very mild phenotype of two siblings characterized by mild isolated cognitive disability, in absence of brain anomalies, seizures, EEG anomalies and without progression of disease. The two patients had unsuccessfully been investigated until clinical exome was performed. In both siblings, compound heterozygosity for two inherited ...[more]