Tag: Lysosomal storage disease
Hurler Syndrome: Understanding Its Causes & Treatments
Hurler syndrome is a lysosomal storage condition that occurs due to mutations in the IDUA gene on chromosome 4, leading to a deficiency or...
Hunter Syndrome: Understanding This Rare Genetic Disorder
Hunter syndrome (also known as mucopolysaccharidosis II or MPS II) is a rare X-linked recessive lysosomal storage disorder with a significantly higher prevalence in...
Batten Disease: Understanding Symptoms & Treatment Options
Batten disease is a rare disease affecting the nervous system. Weak eyesight, seizures, slowed growth rate, delays in cognitive learning, motor skills disability, and...
Niemann-Pick Disease: Understanding Symptoms & Treatment
Niemann-Pick Disease is a lipid-storage disorder marked by the excessive accumulation of lipids, including waxes, oils, and cholesterol, in various organs such as the...
Fabry Disease: Insights into a Rare Condition
Fabry disease is a type of lysosomal storage disease. It is a rare condition in which the body does not make enough of an...
