mitochondrial phosphate carrier deficiency

mitochondrial phosphate carrier deficiency

A fatal disorder (OMIM:610773) of oxidative phosphorylation, characterised by lactic acidosis, hypertrophic cardiomyopathy, muscular hypotonia and death within the first year of life.

Molecular pathology
Caused by defects in SLC25A3, which encodes a protein that transports phosphate into the mitochondrial matrix.
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