Tag: Lysosomal storage disease
Krabbe’s Disease: A Rare and Fatal Neurological Disorder
What is Krabbe Disease?
Krabbe disease, also known as "Globoid Cell Leukodystrophy," belongs to the group of lysosomal storage disorders (LSDs), specifically the sphingolipidoses. It...
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...
