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...

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...

Hereditary Hemochromatosis: Understanding Its Impact & Care

Hereditary Hemochromatosis is an inherited iron overload disorder characterized by excessive iron absorption due to hepcidin deficiency. There are four different types of hereditary...

Lymphangioleiomyomatosis: Understanding Rare Lung Disease

Lymphangioleiomyomatosis, also known as LAM, is a rare, progressive disease that predominantly affects the lungs but can also impact the kidneys and lymphatic system....

Hypophosphatasia: Understanding A Rare Genetic Disorder

What is Hypophosphatasia? Hypophosphatasia is a rare inborn metabolic disorder that affects the mineralization of bone and teeth. Phosphate is one of the essential minerals necessary...

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...

Alkaptonuria: Causes, Symptoms & Treatment Options

What is Alkaptonuria? Alkaptonuria, also known as black urine disease or black bone disease, is a rare hereditary “autosomal recessive” condition stemming from an inborn...