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Metabolic disorders

Renal Tubular Acidosis: Causes, Symptoms & Treatment Options

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...

Maple Syrup Urine Disease: A Rare Metabolic Challenge

Maple Syrup Urine Disease (MSUD) is a rare genetic disorder that affects how the body breaks down certain...

Glycosuria: Causes, Symptoms, and Treatment

Glycosuria is the presence of sugars in the urine, typically indicating an underlying issue with sugar metabolism. Glucosuria—the...

Niemann-Pick Disease: Understanding Symptoms & Treatment

Niemann-Pick Disease is a lipid-storage disorder marked by the excessive accumulation of lipids, including waxes, oils, and cholesterol,...

Hereditary Hemochromatosis: Understanding Its Impact & Care

Hereditary Hemochromatosis is an inherited iron overload disorder characterized by excessive iron absorption due to hepcidin deficiency. There...

Renal Tubular Acidosis: Causes, Symptoms & Treatment Options

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...

Maple Syrup Urine Disease: A Rare Metabolic Challenge

Maple Syrup Urine Disease (MSUD) is a rare genetic disorder that affects how the body breaks down certain amino acids. Amino acids are the...

Glycosuria: Causes, Symptoms, and Treatment

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: Understanding Symptoms & Treatment

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: Understanding Its Impact & Care

Hereditary Hemochromatosis is an inherited iron overload disorder characterized by excessive iron absorption due to hepcidin deficiency. There are four different types of hereditary...

Hypophosphatasia: Understanding A Rare Genetic Disorder

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...