Phenylketonuria (PKU) is a rare inherited metabolic disorder that causes a dangerous buildup of the amino acid phenylalanine in the body. It results from a deficiency or absence of...
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...
Glycosuria is the presence of sugars in the urine, typically indicating an underlying issue with sugar metabolism. Glucosuria—the excretion of glucose in the urine—is...
Niemann-Pick Disease is a lipid-storage disorder marked by the excessive accumulation of lipids, including waxes, oils, and cholesterol, in various organs such as the...
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...