Ontology highlight
ABSTRACT:
SUBMITTER: Van Bergen NJ
PROVIDER: S-EPMC9963268 | biostudies-literature | 2023 Feb
REPOSITORIES: biostudies-literature
Van Bergen Nicole J NJ Gunanayagam Karen K Bournazos Adam M AM Walvekar Adhish S AS Warmoes Marc O MO Semcesen Liana N LN Lunke Sebastian S Bommireddipalli Shobhana S Sikora Tim T Patraskaki Myrto M Jones Dean L DL Garza Denisse D Sebire Dale D Gooley Samuel S McLean Catriona A CA Naidoo Parm P Rajasekaran Mugil M Stroud David A DA Linster Carole L CL Wallis Mathew M Cooper Sandra T ST Christodoulou John J
International journal of molecular sciences 20230210 4
We have previously reported that pathogenic variants in a key metabolite repair enzyme NAXD cause a lethal neurodegenerative condition triggered by episodes of fever in young children. However, the clinical and genetic spectrum of NAXD deficiency is broadening as our understanding of the disease expands and as more cases are identified. Here, we report the oldest known individual succumbing to NAXD-related neurometabolic crisis, at 32 years of age. The clinical deterioration and demise of this i ...[more]