Nephropathic Cystinosis
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by the abnormal accumulation of the amino acid cystine within cells. This accumulation is…
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,…