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mitochondrial phosphate carrier deficiency
Pathology:
- fatal disorder of oxidative phosphorylation
- lactic acidosis
- hypertrophic cardiomyopathy
- muscular hypotonia
Genetics:
- associated with defects in SLC25A3
Clinical manifestations:
- death within the first year of life
General
inborn error of metabolism
References
UniProt :accession Q00325