|
skos:definition |
MSH: An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.,NCI: An autosomal recessive inherited metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures.
|
