Name: Emcitate (tiratricol) in MCT8 deficiency: Prevalence of MCT8 deficiency
Published: 2026-09-14T15:39:06-04:00

Product information and disease description Place of product in therapy Disease description Epidemiology

Prevalence of MCT8 deficiency

6 evidence topics · 6 sources

Prevalence uncertainty

“Prevalence of Allan-Herndon-Dudley syndrome (AHDS) is unknown; however, the identification of more than 160 affected individuals in approximately 15 years suggests that the syndrome is more common than previously thought.” (opens the source at this quote in a new tab)

Published prevalence estimates

“Prevalence estimates range from fewer than one in one million to one in seventy thousand males” (opens the source at this quote in a new tab)

“The estimated prevalence based on diagnosed cases to date is fewer than one in a million” (opens the source at this quote in a new tab)

Number of identified patients and families worldwide

“More than 300 families have been identified with 210 different MCT8 gene variants.” (opens the source at this quote in a new tab)

“However, a substantial proportion of patients is included, with approximately 350 patients reported worldwide” (opens the source at this quote in a new tab)

Nationwide Japanese epidemiology: prevalence

Measure	Estimate
Estimated prevalence in Japan	“1 in 1,890,000”

Nationwide Japanese epidemiology: prevalence calculation

“To estimate the minimum number of patients with MCT8 deficiency patients in Japan, we divided the number of genetically confirmed patients (n = 45) by the questionnaire response rate of the primary survey (67.6 %). Thus, there are approximately 67 MCT8 deficiency patients in Japan.” (opens the source at this quote in a new tab)

Stated limitation of the Japanese prevalence estimate

“There is a need for caution regarding the present results. This survey mainly asked questions to pediatric facilities and did not survey adult departments.” (opens the source at this quote in a new tab)
“number of adult patients with MCT8 deficiency who are followed by general practitioners may be underestimated.” (opens the source at this quote in a new tab)
“Therefore, the present results should be regarded as minimum estimates.” (opens the source at this quote in a new tab)