Enzyme deficiencies

Gaucher’s disease – Glucocerebrosidase deficiency Tay Sachs disease - Hexosaminidase A deficiency Niemann Pick disease - Sphingomyelinase deficiency

Metachromatic leukodystrophy - Arylsulphatase A deficiency

Hurler's syndrome - Iduronidase deficiency

Fabry's disease is an X-linked lysosomal storage disorder. It is caused by a

deficiency of alpha-galactosidase A. Ceramide accumulation occurs in various organs including the heart, skin and nerves. The skin lesion is known as angiokeratoma corporis diffusum.

Gaucher's disease is associated with the enzyme glucocerebrosidase. As a result, glucocerebroside accumulates, principally in the phagocytic cells of the body but also sometimes in the central nervous system neurones.

Maple syrup urine disease (MSUD) is an aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration in the infant who is not treated for MSUD.