Mitochondrial phosphate carrier deficiency
Definition:
Mitochondrial phosphate carrier deficiency (MPCD) is a novel disorder of oxidative phosphorylation caused by mutation in the SLC25A3 gene. The mitochondrial phosphate carrier SLC25A3 transports inorganic phosphate into the mitochondrial matrix, which is essential for the aerobic synthesis of adenosine triphosphate (ATP). The patients present with severe neonatal lactic acidosis, hypertrophic cardiomyopathy and generalised muscular hypotonia.
References:
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[1]. Johannes A Mayr, et al. Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children. Neuromuscul Disord. 2011 Nov;21(11):803-8. [Content Brief]
[2]. Johannes A Mayr, et al. Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet. 2007 Mar;80(3):478-84. [Content Brief]
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