Understanding Canavan Disease: A Comprehensive Guide
Introduction & Background of Canavan Disease Canavan Disease is a rare, inherited, and fatal neurodegenerative disorder that belongs to a […]
Homocystinuria: A Comprehensive Guide to the Genetic Disorder That Causes Blood Clots and Skeletal Abnormalities
Introduction & Background of Homocystinuria Homocystinuria is a rare, inherited metabolic disorder characterized by the body’s inability to properly process […]
Zellweger Syndrome: A Comprehensive Guide
Introduction & Background of Zellweger Syndrome Zellweger Syndrome, also known as Cerebrohepatorenal Syndrome, is a rare, severe, and inherited genetic […]
Menkes Disease: A Comprehensive Guide to the Copper Transport Disorder
Introduction & Background of Menkes Disease Menkes Disease, also known as Menkes syndrome or kinky hair disease, is a rare, […]
Fabry Disease: A Comprehensive Guide to the Genetic Fat Metabolism Disorder
Introduction & Background of Fabry Disease Fabry Disease is a rare, inherited genetic disorder that affects the body’s ability to […]
Gaucher Disease: A Complete Guide to the Genetic Fat Storage Disorder
Introduction & Background of Gaucher Disease – Fat buildup in organs Gaucher Disease (pronounced go-SHAY) is a rare, inherited genetic […]
Phenylketonuria (PKU): A Complete Guide to the Metabolic Disorder
Introduction & Background of Phenylketonuria (PKU) – Affects Amino Acid Metabolism Phenylketonuria (PKU) is a rare, inherited metabolic disorder that […]
Maple Syrup Urine Disease (MSUD): A Complete Guide
Introduction & Background of Maple Syrup Urine Disease (MSUD) Maple Syrup Urine Disease (MSUD) is a rare, inherited metabolic disorder […]
Brugada Syndrome: A Comprehensive Guide to the Sudden Cardiac Death Risk
Introduction & Background of Brugada Syndrome Brugada Syndrome (BrS) is a rare but potentially life-threatening genetic heart rhythm disorder (arrhythmia). […]
Understanding Huntington’s Disease: Causes, Symptoms, and Management
Introduction & Background of Huntington’s Disease Huntington’s Disease (HD) is a rare, inherited, and progressive neurodegenerative disorder. It is characterized […]