Metabolic disorders

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...

Cachexia: Understanding the Wasting Syndrome & Its Impact

Cachexia, also known as wasting syndrome, is a complicated metabolic syndrome involving muscle mass loss along with anorexia, insulin resistance, and increased protein turnover....

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...

Hypercalcemia: Understanding Causes, Symptoms & Treatment

Hypercalcemia is a condition characterized by too much calcium in the bloodstream. It can cause bone weakening, kidney stones, and interference with heart and...

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...