Mitochondrial tubulopathy: the many faces of mitochondrial disorders |
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| Authors: | Lee Y S Yap H K Barshop B A Lee Y S Rajalingam S Loke K Y |
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| Affiliation: | (1) National University of Singapore, National University Hospital, 5 Lower Kent Ridge Road, Singapore 119074. paeleeys@nus.edu.sg, SG;(2) Department of Pediatrics, National University of Singapore, Singapore, SG;(3) Department of Pediatrics, University of California, San Diego, California, USA, US;(4) Department of Pathology, National University of Singapore, Singapore, SG |
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| Abstract: | We report a rare presentation of mitochondrial disorder in a child with recurrent carpopedal spasms due to hypocalcemia and hypomagnesemia, secondary to renal proximal tubulopathy and possible hypoparathyroidism. At least two mutant mitochondrial DNA species were identified, and abnormal mitochondria were found in the muscle and renal biopsy specimens. The case illustrates the spectrum and diversity of mitochondrial presentations, arising because of heteroplasmy of mutations and the type of organs affected. Received: 31 October 2000 / Revised: 16 April 2001 / Accepted: 17 April 2001 |
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| Keywords: | Mitochondrial disorder Proximal renal tubular dysfunction Hypoparathyroidism |
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