Herpes Simplex Dendritic Keratitis

Herpes simplex dendritic keratitis is a common form of viral keratitis caused by the herpes simplex virus (HSV). This condition predominantly affects the cornea, leading to painful eye symptoms and potential vision impairment. Early diagnosis and appropriate treatment are essential to prevent complications. What is Herpes Simplex Dendritic Keratitis? Herpes simplex dendritic keratitis is an

Herniated Lumbar Disc: Causes, Symptoms

A herniated lumbar disc is a common spinal condition that occurs when the soft inner core of a spinal disc protrudes through its outer layer. This condition often results in lower back pain, leg pain, and other neurological symptoms. Anatomy of the Lumbar Spine The lumbar spine comprises five vertebrae (L1-L5) that provide flexibility and

Hereditary Tyrosinemia Type I

Hereditary Tyrosinemia Type I (HT1) is a rare genetic disorder caused by a deficiency in the enzyme fumarylacetoacetate hydrolase (FAH). This enzyme is essential in the breakdown of the amino acid tyrosine. The absence of FAH leads to the accumulation of toxic metabolites in the liver and kidneys, resulting in severe complications. Causes of Hereditary

Hereditary Orotic Aciduria Type I

Hereditary orotic aciduria type I is a rare autosomal recessive metabolic disorder characterized by a deficiency in the enzyme uridine monophosphate synthase (UMPS). This condition affects pyrimidine biosynthesis, resulting in excessive excretion of orotic acid in the urine and impaired growth and development. Causes and Genetic Basis Hereditary orotic aciduria type I is caused by

Hereditary Factor XIII Deficiency Disease

Hereditary Factor XIII (FXIII) deficiency is a rare genetic bleeding disorder characterized by impaired blood clotting due to low levels or dysfunction of Factor XIII. This condition is inherited in an autosomal recessive pattern and can result in severe bleeding episodes if untreated. Causes of Hereditary Factor XIII Deficiency Factor XIII deficiency results from mutations

Hereditary Factor XIII A Subunit Deficiency

Hereditary Factor XIII A subunit deficiency is a rare congenital bleeding disorder resulting from mutations in the F13A1 gene. This condition impairs the blood’s ability to form stable clots, leading to prolonged bleeding episodes and other complications. What is Factor XIII A Subunit Deficiency? Factor XIII (FXIII) is a crucial clotting factor composed of two

Hereditary Factor X Deficiency Disease

Hereditary Factor X Deficiency Disease is a rare genetic disorder characterized by impaired blood clotting due to insufficient or malfunctioning Factor X protein. This condition is classified as a bleeding disorder and is inherited in an autosomal recessive manner. What is Factor X? Factor X, also known as Stuart-Prower factor, is a critical coagulation protein

Hereditary Factor VII Deficiency Disease

Hereditary Factor VII (FVII) deficiency is a rare genetic disorder characterized by insufficient levels or dysfunction of coagulation factor VII, a crucial protein involved in blood clotting. This condition can lead to excessive bleeding or prolonged bleeding episodes. Understanding Factor VII and Its Role in Blood Clotting Factor VII is a vitamin K-dependent protein produced

Hereditary Coproporphyria (HCP): Symptoms, Causes

Hereditary coproporphyria (HCP) is a rare genetic disorder characterized by a deficiency in the enzyme coproporphyrinogen oxidase (CPOX), which is crucial in the heme biosynthesis pathway. This condition is classified as an acute hepatic porphyria, manifesting with intermittent neurovisceral attacks. Causes of Hereditary Coproporphyria HCP is caused by mutations in the CPOX gene. This gene

Hereditary Angioedema (HAE): Causes, Symptoms

Hereditary Angioedema (HAE) is a rare genetic disorder that causes recurrent episodes of severe swelling in various parts of the body. This condition can significantly impact the quality of life and may become life-threatening without proper management. What is Hereditary Angioedema (HAE)? Hereditary Angioedema is an autosomal dominant disorder characterized by a deficiency or dysfunction