Acanthosis Nigricans (AN) is a skin condition characterized by dark, velvety, thickened patches or plaques, typically appearing in body folds and creases. Common sites include the axillae (armpits), posterior...
Hereditary Hemochromatosis is an inherited iron overload disorder characterized by excessive iron absorption due to hepcidin deficiency. There are four different types of hereditary...
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 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...