Hypercalcemia, a condition characterized by elevated calcium levels in the blood, is commonly associated with primary hyperparathyroidism (PHPT). This endocrine disorder occurs due to excessive secretion of parathyroid hormone (PTH) from one or more enlarged or overactive parathyroid glands. Understanding its causes, symptoms, diagnosis, and treatment options is crucial for effective management. Causes of Hypercalcemia
Hypercalcemia associated with sarcoidosis is a medical condition characterized by elevated calcium levels in the blood due to the granulomatous inflammation seen in sarcoidosis. Understanding its causes, symptoms, and treatment options is essential for effective management. What is Sarcoidosis? Sarcoidosis is an inflammatory disease that causes granuloma formation in various organs, most commonly the lungs
Hypercalcemia refers to an elevated calcium level in the blood above the normal range. Calcium is vital for bone health, muscle function, nerve transmission, and hormone release. However, excess calcium can pose serious health risks. Causes of Hypercalcemia Primary Hyperparathyroidism Cancer-Related Hypercalcemia Medications Other Conditions Symptoms of Hypercalcemia Mild cases may be asymptomatic, while severe
Hyperbilirubinemia in newborns caused by hemolytic disease is a serious condition that requires prompt diagnosis and management. Hemolytic disease of the newborn (HDN) is characterized by the destruction of red blood cells due to maternal-fetal blood incompatibility. This leads to excessive bilirubin production, potentially resulting in severe complications like kernicterus. Causes of Hyperbilirubinemia in Newborns
Hyperbilirubinemia is a medical condition characterized by elevated levels of bilirubin in the blood. Bilirubin is a yellow pigment formed during the breakdown of red blood cells. Excessive bilirubin leads to jaundice, causing the skin, sclera (whites of the eyes), and mucous membranes to turn yellow. Types of Hyperbilirubinemia Hyperbilirubinemia can be classified into several
Hyperammonemia due to propionic acidemia (PA) is a severe metabolic condition resulting from the accumulation of ammonia in the bloodstream. Propionic acidemia is a rare autosomal recessive disorder that significantly impacts metabolic pathways, often leading to life-threatening complications if untreated. Understanding the underlying mechanisms, clinical presentation, and effective management strategies is crucial for improving patient
Hyperammonemia due to methylmalonic acidemia (MMA) is a rare yet serious metabolic disorder characterized by elevated ammonia levels in the blood. This condition arises from a deficiency in enzymes crucial for amino acid metabolism, resulting in toxic accumulation of ammonia and organic acids. Understanding Methylmalonic Acidemia (MMA) Methylmalonic acidemia is a genetic disorder caused by
N-Acetylglutamate Synthase (NAGS) deficiency is a rare autosomal recessive metabolic disorder that disrupts the urea cycle. This condition results in the accumulation of ammonia in the blood, a condition known as hyperammonemia. Left untreated, this disorder can lead to severe neurological damage, coma, or even death. Understanding the Role of NAGS in the Urea Cycle
Hyperammonemia is a metabolic disorder characterized by elevated ammonia levels in the blood. Ammonia, a byproduct of amino acid metabolism, is typically converted to urea in the liver and excreted via the kidneys. Accumulation of ammonia can have severe neurological effects, making early diagnosis and intervention crucial. Causes of Hyperammonemia Hyperammonemia can result from genetic
Hyper IgD Periodic Fever Syndrome (HIDS) is a rare autoinflammatory disorder characterized by recurrent episodes of fever accompanied by various systemic symptoms. It falls under the broader category of periodic fever syndromes and is caused by mutations in the MVK gene, leading to mevalonate kinase deficiency. What is Hyper IgD Periodic Fever Syndrome (HIDS)? HIDS