Mucopolysaccharidosis Type VII (Sly Syndrome)
Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a rare lysosomal storage disorder caused by a deficiency of the β-glucuronidase (GUSB) enzyme.…
Mucopolysaccharidosis Type IV-A (Morquio A Syndrome)
Mucopolysaccharidosis type IV-A (MPS IV-A), also known as Morquio A syndrome, is a rare lysosomal storage disorder caused by a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase…
Mucopolysaccharidosis Type II (MPS II)
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase…
Mucopolysaccharidosis Type I (MPS I)
Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This deficiency leads to the accumulation of…
Lysosomal Acid Lipase Deficiency (LAL-D)
Lysosomal Acid Lipase Deficiency (LAL-D) is a rare genetic disorder affecting the body's ability to break down lipids. The condition results from mutations in the…
Gaucher’s Disease: Causes, Symptoms, Diagnosis, and Treatment
Gaucher’s disease is a rare genetic disorder caused by a deficiency of the enzyme glucocerebrosidase. This leads to the accumulation of glucocerebroside in the spleen,…