Renal Tubular Acidosis (RTA) is a condition in which the kidneys fail to properly regulate the body's acid-base balance despite normal blood filtration. This results from defects in the...
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, also known as wasting syndrome, is a complicated metabolic syndrome involving muscle mass loss along with anorexia, insulin resistance, and increased protein turnover....
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 is a condition characterized by too much calcium in the bloodstream. It can cause bone weakening, kidney stones, and interference with heart and...
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...