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8170 The Relationship Between SUOX Gene Mutation and Type 1 Diabetes

Year: 2024
Type: article
Study design: Case Report
Abstract: Disclosure: S. Green: None. S. Ilaka-Chibuluzo: None. Isolated Sulfite Oxidase Deficiency (ISOD) is a rare autosomal recessive inborn error of metabolism caused by a missense mutation in the SUOX gene (gene locus 12q13.2). The main sequalae of ISOD is neuro-cognitive developmental delay, microcephaly, muscle spasticity, chronic aspiration, severe scoliosis, and seizures. The sulfite oxidase enzyme catalyzes the final step of the breakdown of methionine and cysteine, sulfur-containing amino acids. Loss of function of SUOX gene causes increased production of reactive oxygen species, decreased activity of TCA cycle, and decreased ATP synthesis within the mitochondria. SUOX gene mutation has been found to be preliminarily linked to Type 1 Diabetes (T1D) through the loss of β cells through altered expression of macrophages and dendritic cells. However, there has not been in-depth analysis between this connection. OS is a seven-year-old male diagnosed with ISOD. He had an uncomplicated gestation and delivery and started having seizure activity of day of life one. The subsequent EEG showed abnormal background activity consistent with burst suppression, but no seizure activity. The MRI of his brain showed diffuse cerebral atrophy and basal ganglia ischemic injury. After numerous genetic screenings, he was found to have a SUOX mutation. During a recent hospitalization in 2023, he was found to have elevated pancreatic enzymes, hyperglycemia, and an elevated hemoglobin a1c, at which point he was diagnosed with T1D. Presentation: 6/2/2024
DOI: 10.1210/jendso/bvae163.1524
Authors: S Green, S Ilaka-Chibuluzo
Language: English
Open Access status: gold
Estimated APC paid: $3,418
OpenAlex ID: W4403148586
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