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...
Pierre Robin Syndrome: Understanding the Condition
Pierre Robin Syndrome, a rare congenital disorder, manifests with facial and mouth deformities that impede breathing. It can occur independently or alongside syndromes like...
