Lysosomal Storage Diseases

Lysosomal Storage Diseases are a group of inherited metabolic disorders characterized by the accumulation of various substances in lysosomes due to enzyme deficiencies.

Fabry's Disease is a rare genetic disorder caused by a deficiency of the alpha-galactosidase enzyme, leading to the accumulation of ceramide trihexoside. It is inherited in an X-linked recessive manner and manifests with symptoms such as peripheral neuropathy, skin rashes, cataracts, and cardiovascular/renal complications.

Gaucher's Disease is characterized by a deficiency of the enzyme Beta glucocerebrosidase, leading to the accumulation of Glucocerebroside. This results in hepatosplenomegaly, aseptic necrosis of the femur, and bone crisis. The disease is inherited in an autosomal recessive manner.

The given symptoms and characteristics match with Neimman Pick disease which is caused by deficiency of Sphingomyelinase enzyme leading to accumulation of Sphingomyelin. The inheritance pattern is autosomal recessive.

Krabbe Disease is the correct answer as it is characterized by the mentioned symptoms and is associated with a deficiency in the B galactocerebrosidase enzyme leading to the accumulation of Galactocerebroside in an autosomal recessive inheritance pattern. Tay-Sachs Disease, Gaucher Disease, and Fabry Disease are also lysosomal storage disorders but present with different manifestations and deficiencies.

Hurler's Disease, also known as mucopolysaccharidosis type I, is a lysosomal storage disorder caused by a deficiency of the enzyme alpha-L iduronidase. This deficiency leads to the accumulation of heparin sulfate and dermatan sulfate, causing the characteristic symptoms mentioned.

The correct answer is Hunter Syndrome as it matches the description provided in the question. Tay-Sachs Syndrome, Fabry Disease, and Hurler Syndrome do not have the exact combination of characteristics mentioned in the question.

Tay Sachs Disease is a rare genetic disorder characterized by a deficiency in the enzyme Hexosaminadase, leading to the accumulation of GM2 Gangliosides in the body. This condition is inherited in an autosomal recessive manner. While Gaucher, Fabry, and Niemann-Pick diseases are also lysosomal storage disorders, they do not present with the same characteristic features as Tay Sachs Disease.

Ashkenazi Jews have a higher carrier rate for genetic disorders such as Tay Sachs, Niemann Pick, and Gauchers Disease compared to the general population. While Cystic Fibrosis, Sickle Cell Anemia, and Huntington's Disease are genetic disorders found in other populations, they are not commonly associated with Ashkenazi Jews.