Decreased survival in people with Class I subtype of sulfite metabolism disorder

Takeaway

  • There are two distinct clinicoradiographic profiles for people with isolated sulfite oxidase deficiency (ISOD) and molybdenum cofactor deficiency (MoCD), which impact survival rate.

Why this matters

    Stratifying patients into phenotypic subgroups may aid in the diagnosis and prognosis of people with sulfite metabolism disorders, as well as impact the design of future clinical trials.