New IEM: Mitochondrial Phosphate-Carrier Deficiency

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Part 21: MEMBRANE TRANSPORT DISORDERS.

Mitochondrial Phosphate-Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation
Johannes A. Mayr, Olaf Merkel, Sepp D. Kohlwein, Boris R. Gebhardt, Hansjosef Böhles, Ulrike Fötschl, Johannes Koch, Michaela Jaksch, Hanns Lochmüller, Rita Horváth, Peter Freisinger, and Wolfgang Sperl
The American Journal of Human Genetics, volume 80 (2007)

 
This group describes two patients from the same family, who presented with hypotonia and cardiomyopathy. Investigations revealed defective ATP synthesis in muscle. After excluding potentially culptrit genes, they sequenced SLC25A3, and identified and then proved a deficiency in the mitochodrial phosphate carrier. And thus a new inborn error of metabolism is described.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

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