Metabolic crisis after trivial head trauma in late-onset isolated sulfite oxidase deficiency: Report of two new cases and review of published patients

Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessively inherited inborn error of metabolism, caused by mutation in SUOX gene. ISOD has two kind of presentation; early and late-onset. The late-onset form is extremely rare and only 10 cases have been reported.

Source: Brain and Development - December 1, 2019 Category: Neurology Authors: Indar Kumar Sharawat, Lokesh Saini, Bhanudeep Singanamala, Arushi Gahlot Saini, Jitendra Kumar Sahu, Savita Verma Attri, Naveen Sankhyan Source Type: research