Mitochondrial myopathy-lactic acidosis-deafness syndrome
Mitochondrial myopathy-lactic acidosis-deafness syndrome
Definition
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.
Also known as mitochondrial myopathy with lactic acidosis, mitochondrial myopathy-lactic acidosis-hearing loss syndrome — per MONDO