Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review.

ABSTRACT:

Background

Isolated sulfite oxidase deficiency (ISOD) is an autosomal recessive disorder caused by a deficiency of sulfite oxidase, which is encoded by the sulfite oxidase gene (SUOX). Clinically, the disorder is classified as one of two forms: the late-onset mild form or the classic early-onset form. The latter is life-threatening and always leads to death during early childhood. Mild ISOD cases are rare and may benefit from dietary therapy. To date, no cases of ISOD have been reported to recover spontaneously. Here, we present three mild ISOD cases in one family, each with a stable clinical course and spontaneous recovery.

Case presentation

All three siblings had two novel compound heterozygous mutations in the SUOX gene (NM_000456; c.1096C > T [p.R366C] and c.1376G > A [p

SUBMITTER: Tian M 

PROVIDER: S-EPMC6927172 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature