Hyperammonemia Due to Methylmalonic Acidemia

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

Hyperammonemia Associated with N-Acetylglutamate

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: Causes, Symptoms

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

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

Hymenolepiasis Infection: Causes, Symptoms

Hymenolepiasis infection is a parasitic disease caused by Hymenolepis nana (dwarf tapeworm) or Hymenolepis diminuta. It primarily affects the gastrointestinal tract and is prevalent worldwide, particularly in regions with poor sanitation and hygiene practices. Causes and Transmission of Hymenolepiasis Hymenolepiasis is caused by ingesting eggs of the Hymenolepis species. The primary causes include: Risk Factors

Hutchinson-Gilford Progeria Syndrome

Hutchinson-Gilford Progeria Syndrome (HGPS), commonly referred to as progeria, is a rare genetic condition characterized by accelerated aging in children. This progressive disorder significantly impacts physical development, often leading to severe cardiovascular complications and reduced lifespan. Causes and Genetic Basis HGPS is caused by a mutation in the LMNA gene, responsible for producing the lamin

Humoral Hypercalcemia of Malignancy

Humoral hypercalcemia of malignancy (HHM) is a paraneoplastic syndrome characterized by elevated calcium levels in the bloodstream due to malignancy. It is commonly associated with solid tumors such as lung, breast, and renal cancers. Understanding the pathophysiology, clinical presentation, and treatment of HHM is crucial for effective management. Pathophysiology of Humoral Hypercalcemia of Malignancy HHM

Human Bite Wound: Comprehensive Guide on Causes

Human bite wounds are injuries inflicted by the teeth of a person, often occurring during fights, accidental contact, or aggressive behavior. Although these injuries may seem minor, they carry a high risk of infection and complications if untreated. Understanding the causes, symptoms, and treatment options is crucial for ensuring proper care. Causes of Human Bite

Hormone Receptor-Positive Early Breast Cancer

Hormone receptor-positive (HR+) early breast cancer is a subtype of breast cancer characterized by the presence of estrogen receptors (ER) and/or progesterone receptors (PR) on cancer cells. These receptors fuel cancer growth through hormone stimulation. Risk Factors for Hormone Receptor-Positive Early Breast Cancer Identifying risk factors helps in early detection and preventive strategies. Common risk

Hormone Receptor-Positive Breast Cancer

Hormone receptor-positive (HR-positive) breast cancer is a type of breast cancer that grows in response to hormones such as estrogen and progesterone. This subtype is characterized by the presence of hormone receptors in cancer cells, making hormonal therapy an effective treatment option. What is Hormone Receptor-Positive Breast Cancer? HR-positive breast cancer is defined by the