Unrecognized High Occurrence of Genetically Confirmed Hereditary Carnitine Palmitoyltransferase II Deficiency in an Austrian Family Points to the Ongoing Underdiagnosis of the Disease

Unrecognized High Occurrence of Genetically Confirmed Hereditary Carnitine Palmitoyltransferase II Deficiency in an Austrian Family Points to the Ongoing Underdiagnosis of the Disease

Adult muscle carnitine palmitoyltransferase (CPT) II deficiency is a rare autosomal recessive disorder of long-chain fatty acid metabolism. It is typically associated with recurrent episodes of exercise-induced rhabdomyolysis and myoglobinuria, in most cases caused by a c.338C > T mutation in...

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Bibliographic Details
Main Authors: Christina Zach, Karl Unterkofler, Peter Fraunberger, Heinz Drexel, Axel Muendlein
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-05-01
Series:Frontiers in Genetics
Subjects:
carnitine palmitoyltransferase II deficiency
family study
mutation
underdiagnosis
pedigree
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00497/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00497/full

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