You are using an outdated browser. Please upgrade your browser to improve your experience.

mitochondrial myopathy-lactic acidosis-deafness syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description An autosomal recessive disorder characterized by progressive muscle weakness, hypotonia, seizures, poor weight gain, lactic acidosis, and elevated serum pyruvate concentration. Some patients manifest growth failure and moderate neural deafness.
Mondo Term and Equivalent IDs
MONDO:0016825:  mitochondrial myopathy-lactic acidosis-deafness syndrome
GARD:0003682: 
MESH:C537476: 
Orphanet:2597: