Understanding Phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare inherited metabolic disorder that causes a dangerous buildup of the amino acid phenylalanine in the body. It results from...
Von Willebrand Disease: Causes, Symptoms, and Treatment
Von Willebrand disease is one of the most prevalent blood disorders in the world.Bowman M, Hopman WM, Rapson D, Lillicrap D, James P. The...
Goodpasture’s Syndrome: Autoimmunity Gone Wrong
Goodpasture's Syndrome, more accurately referred to today as anti-GBM disease, is a rare autoimmune small vessel vasculitis. In this condition, the immune system produces...
Kleefstra Syndrome: Causes, Symptoms, and Treatment
Kleefstra Syndrome, also known as 9q subtelomeric deletion syndrome, 9q34.3 deletion syndrome, or EHMT1-related neurodevelopmental syndrome, is a rare genetic disorder that causes neurodevelopmental...
Carpenter Syndrome: Causes, Symptoms, and Treatment Options
Carpenter Syndrome, also known as acrocephalopolysyndactylyl type Ⅱ, is a rare genetic disorder that causes multiple deformities in infants. It is primarily caused by...
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...
