List Of Lysosomal Storage Disorders

Two types are as follows.

List of lysosomal storage disorders. Anemia low red blood cell count enlarged spleen and liver easy bleeding and bruising tiredness bone pain and fractures joint pain eye problems seizures. Lysosomal storage diseases are a group of inherited metabolic disorders caused by a deficiency of specific enzymes. Researchers have identified three distinct types of gaucher disease based upon the absence type i or presence and extent of types ii and iii neurological complications.

Gangliosidoses alpha galactosidase fabry disease alpha galactosidase a schindler. These disorders are. Sphingolipidoses ceramidase farber disease krabbe disease infantile onset late onset farber disease krabbe disease infantile onset late onset infantile onset late onset galactosialidosis gangliosides.

Infantile onset pompe disease late onset pompe disease. Gaucher disease types i ii and iii. The lysosomal disease network u54ns065768 is a part of the national institutes of health nih rare diseases clinical research network rdcrn supported through collaboration between the nih office of rare diseases research ordr at the national center for advancing translational science ncats the national institute of neurological.

Gaucher disease is the most common type of lysosomal storage disorder. In general symptoms include. Gaucher disease is one of the most common lysosomal storage disorders lsds.

Lysosomal storage diseases lsds are a group of over 70 diseases that are characterized by lysosomal dysfunction most of which are inherited as autosomal recessive traits.