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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...

Biotinidase Deficiency: Understanding the Genetic Disorder

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: Understanding the Wasting Syndrome & Its Impact

Cachexia, also known as wasting syndrome, is a complicated metabolic syndrome involving muscle mass loss along with anorexia, insulin resistance, and increased protein turnover....

Alkaptonuria: Causes, Symptoms & Treatment Options

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: Understanding Causes, Symptoms & Treatment

Hypercalcemia is a condition characterized by too much calcium in the bloodstream. It can cause bone weakening, kidney stones, and interference with heart and...

Biliary Disease: Exploring Causes, Symptoms & Treatments

Biliary Disease, also known as bile duct disease, includes a variety of disorders involving the bile duct. They all cause blockage of bile ducts...

Acute Hepatic Porphyria: Symptoms, Causes & Management

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...