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Emcitate (tiratricol)

MCT8 deficiency

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78 sources

Product information and disease descriptionPlace of product in therapyDisease descriptionEpidemiology

Incidence of MCT8 deficiency

3 evidence topics · 2 sources

Nationwide Japanese epidemiology: incidence
MeasureEstimate
Incidence per million births in Japan, with 95% confidence interval“2.12 (95 % CI: 0.99–3.25)”
Nationwide Japanese epidemiology: survey method and response rate

“In the primary survey, the response rate was 694/1027 (67.6 %), and 31 hospitals had experience in treating patients with MCT8 deficiency. Forty-five patients were genetically diagnosed as MCT8 deficient, and eight were strongly suspected based on the clinical course.” (opens the source at this quote in a new tab)

Estimated birth frequency

“The frequency of MCT8 deficiency among people with intellectual disability is not known, though estimated to occur in 1 in 70,000 newborns.” (opens the source at this quote in a new tab)