Metachromatic leukodystrophy-MLD is also known as Greenfield’s disease. Metachromatic leukodystrophy is a lysosomal storage disease, wherein the myelin sheath that covers most of the nerve fibers of the central and peripheral nervous systems gets damaged. 1. The deficiency of the lysosomal enzyme arylsulfatase A - ARSA or its sphingolipid activator protein B -SapB results in MLD or greenfield disease.  Read More

The skeleton is typically affected by the uncommon genetic metabolic condition known as morquio syndrome. The specific GAG that accumulates in the body during Morquio Syndrome is known as keratan sulfate. This lysosomal storage disorder is a form of the autosomal recessive birth condition. GAG accumulation in many body regions results in symptoms in numerous organ systems. Treatment 1. Th  Read More

Multiple exostoses syndrome, which is benign bone tumors with cartilage caps that grow outward from the metaphyses of long bones, is the hallmark of multiple hereditary osteochondromas (HMO), formerly known as hereditary multiple exostoses (HME). Reduced skeletal growth, bone deformities, reduced joint motion, short stature, early osteoarthritis, and compression of peripheral nerves have all been linked to osteochondromas. Nea  Read More