Mitochondrial myopathy with lactic acidosis

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Other Names: Metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness

Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.

NIH genetic and rare disease info[edit]

Mitochondrial myopathy with lactic acidosis is a rare disease.

Rare and genetic diseases

Rare diseases - Mitochondrial myopathy with lactic acidosis

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