Genetic disorders

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...

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...