A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.
Mannosidase Deficiency Diseases +
maple syrup urine disease +
MELAS syndrome +
Menkes disease +
MERRF Syndrome +
mevalonic aciduria
Microphthalmia and Mental Deficiency
mucopolysaccharidosis +
oculocerebrorenal syndrome +
phenylketonuria +
pycnodysostosis
pyruvate carboxylase deficiency disease +
pyruvate decarboxylase deficiency +
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression