Tag: Seizures
Maple Syrup Urine Disease: A Rare Metabolic Challenge
Maple Syrup Urine Disease (MSUD) is a rare genetic disorder that affects how the body breaks down certain amino acids. Amino acids are the...
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...
Biotinidase Deficiency: Understanding the Genetic Disorder
Biotinidase Deficiency is an inherited autosomal recessive disorder in which the enzyme biotinidase is deficient. The enzyme helps to recycle the vitamin biotin, and...
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...
Lennox Gastaut Syndrome: Understanding The Complexity
Lennox Gastaut Syndrome is an epileptic disorder that occurs in infants and children. This condition is also called childhood encephalopathy. Infants or children with...
Brugada Syndrome – Understanding the Silent Threat
Brugada syndrome is a rare condition that can lead to abnormal heartbeat. It can be very dangerous and is caused by faulty genes inherited...
