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Severe lactic acidosis
- ... the glycine cleavage system. Affected infants often have severe brain dysfunction (encephalopathy) and elevated levels of a chemical called lactic acid in the body (lactic acidosis). These babies usually do not survive past infancy. ...
- ... the glycine cleavage system. Affected infants often have severe brain dysfunction (encephalopathy) and elevated levels of a chemical called lactic acid in the body (lactic acidosis). These babies usually do not survive past infancy. ...
- ... the first few months of life and causes severe muscle weakness, poor muscle tone (hypotonia), and buildup of a chemical called lactic acid in the body (lactic acidosis). Affected infants often have difficulty feeding and need ...
- ... dehydrogenase deficiency. The signs and symptoms of this severe condition vary widely, but they most commonly include a potentially life-threatening buildup of lactic acid in the tissues (lactic acidosis), neurological problems, and liver disease.Most DLD mutations ...
- ... in people with a condition called mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). This condition is characterized by recurrent severe headaches, muscle weakness (myopathy), hearing loss, stroke-like ...
- ... of people with the features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) have a mutation in the MT-TH gene. This condition is characterized by recurrent severe headaches, muscle weakness (myopathy), hearing loss, stroke-like ...
- ... features of another mitochondrial disorder called mitochondrial ... muscle weakness (myopathy), difficulty coordinating movements (ataxia), ...
- ... mutations are a rare cause of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). Most cases of ...
- ... Lind L, Thornell LE, Holmberg M. Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 ...