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...
Tangier Disease: Causes, Symptoms and Risks
Tangier Disease is a rare genetic disorder characterized by extremely low levels of high-density lipoprotein (HDL) cholesterol, also known as "good cholesterol." It is...
Hypoplastic Left Heart Syndrome: Causes, Symptoms & Care
Hypoplastic Left Heart Syndrome is a pathological condition in which the left heart chamber and its structures (mitral valve, aortic arch, ascending aorta, aortic...
Dravet Syndrome: Understanding This Severe Epilepsy
Dravet syndrome is a rare and catastrophic form of epilepsy that begins in infancy or early childhood. It is characterized by prolonged and recurrent...
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...
Smith Lemli Opitz Syndrome: Understanding Its Impact & Care
Smith Lemli Opitz Syndrome is an autosomal recessive disorder that causes multiple congenital anomalies due to defective cholesterol metabolism. This syndrome restricts the growth...
