What is the global prevalence of carnitine deficiency?

Updated: Dec 13, 2019
  • Author: Fernando Scaglia, MD, FACMG; Chief Editor: Maria Descartes, MD  more...
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Answer

In a Japanese study, primary systemic carnitine deficiency was estimated to occur in 1 per 40,000 births. [3] In Australia, the incidence has been estimated to be between 1:37,000-1:100,000 newborns. The frequency of this condition in adults is not known. However, in the United Kingdom, a previous report identified 4 affected mothers in 62,004 infants screened, with a frequency of 1:15,500.


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