lysosomal storage disease
any inborn error of metabolism having four characteristics: (1) a defect in a specific lysosomal hydrolase; (2) intracellular accumulation of the unmetabolized substrate; (3) clinical progression affecting multiple tissues and organs; (4) considerable phenotypic variation within a disease. All but two of the lysosomal storage disorders are of autosomal recessive inheritance. The term comprises the mucolipidoses, mucopolysaccharidoses, disorders of glycoprotein degradation, lipase deficiencies, ceramidase deficiency (Farber disease), α-galactosidase A deficiency (Fabry disease), lipidoses, and gangliosidoses. Called also lysosomal enzymopathy and inborn lysosomal d. See also inborn errors of metabolism, under error.
Medical dictionary.
2011.