DWQA QuestionsCategory: QuestionsPrimary Carnitine Deficiency
Karthik asked 3 weeks ago

Who discovered Primary Carnitine Deficiency?

1 Answers
physician@informnetwork.org'Physician answered 2 weeks ago

Dr. Andrew Engel probably published the first report of a patient with a primary carnitine transporter defect in 1972. Because they were not able to measure the function of the transporter directly, it’s not 100% certain that the defect was primary. In 1975, Dr. Engel and other collaborators described several additional similar patients and showed that supplementation with carnitine was effective in restoring carnitine levels in patient tissues. It wasn’t until the late 1990’s when several groups first reported the presence of mutations in the SLC22A5 gene in patients with documented defects in cellular carnitine transport. i hope this helps.