Hurler syndrome is a lysosomal storage condition that occurs due to mutations in the IDUA gene on chromosome 4, leading to a deficiency or absence of the enzyme alpha-L-iduronidase....
MODY Diabetes
Maturity-onset diabetes of the young (MODY) is a non-insulin-dependent type of diabetes mellitus that doctors usually discover in young adults. MODY is mostly...
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...