Genetic disorders

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 is a rare, autosomal recessive...

Zellweger Syndrome: Shedding Light on the Rare Genetic Disorder

What is Zellweger Syndrome? Zellweger syndrome is a rare genetic disorder that disrupts cellular function and usually appears soon after birth. Named after Dr. Hans...

Acute Hepatic Porphyria: Symptoms, Causes & Management

What is Acute Hepatic Porohria? Acute hepatic porphyria (AHP) is a group of metabolic disorders characterized by the buildup of specific molecules known as porphyrins...

Pierre Robin Syndrome: Understanding the Condition

Pierre Robin Syndrome, a rare congenital disorder, manifests with facial and mouth deformities that impede breathing. It can occur independently or alongside syndromes like...

Pompe Disease: Understanding Symptoms & Treatments

What is Pompe Disease? Pompe disease, also referred to as Glycogen Storage Disease Type II (GSDII), is a rare genetic disorder characterized by muscle wasting...

Dystrophic Epidermolysis Bullosa: A Rare Skin Disorder

Dystrophic Epidermolysis Bullosa is a rare hereditary skin disorder that causes the skin, mucous membranes, and nails to become highly fragile. It presents with...