Tag: genetic disorders

  • Oculocutaneous Albinism

    Oculocutaneous Albinism: Definition and Description of Oculocutaneous Albinism: Oculocutaneous Albinism (OCA) is a genetic condition characterized by a deficiency in the production of melanin, the pigment responsible for color in the skin, hair, and eyes. OCA affects both the skin and the eyes, resulting in lighter skin and hair color and various visual impairments. The…

  • NDI

    NDI: Definition and Description of NDI: NDI, or Nephrogenic Diabetes Insipidus, is a rare disorder characterized by the kidney’s inability to concentrate urine in response to the hormone vasopressin (also known as antidiuretic hormone, ADH). This condition leads to an inability to retain water, resulting in excessive urination (polyuria) and thirst (polydipsia). Unlike diabetes mellitus,…

  • Nephrogenic Diabetes Insipidus

    Nephrogenic Diabetes Insipidus: Definition and Description of Nephrogenic Diabetes Insipidus: Nephrogenic Diabetes Insipidus (NDI) is a rare condition characterized by the kidneys’ inability to concentrate urine due to a lack of response to the hormone vasopressin (also known as antidiuretic hormone, ADH). This hormonal deficiency results in excessive urination (polyuria) and extreme thirst (polydipsia), leading…

  • Muscular Dystrophies

    Muscular Dystrophies: Definition and Description of Muscular Dystrophies: Muscular dystrophies (MD) are a group of inherited disorders characterized by progressive muscle weakness and degeneration. These conditions are caused by genetic mutations that interfere with the production of proteins necessary for healthy muscle function. There are many types of muscular dystrophies, each affecting different sets of…

  • MPS

    MPS: Definition and Description of MPS: MPS, or Mucopolysaccharidosis, refers to a group of inherited metabolic disorders caused by the body’s inability to properly break down certain types of carbohydrates known as glycosaminoglycans (GAGs). These complex molecules are essential for the structure and function of connective tissues. In individuals with MPS, the accumulation of GAGs…

  • MPS Disorder

    MPS Disorder: Definition and Description of MPS Disorder: MPS Disorder, or mucopolysaccharidosis, is a group of inherited metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes responsible for breaking down mucopolysaccharides, also known as glycosaminoglycans. These complex carbohydrates accumulate in the body and lead to progressive damage in various organs and tissues. Symptoms…

  • Mucopolysaccharidosis Type II

    Mucopolysaccharidosis Type II: Definition and Description of Mucopolysaccharidosis Type II: Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare genetic disorder that falls under the category of lysosomal storage diseases. It is caused by a deficiency of the enzyme iduronate-2-sulfatase (I2S), which plays a crucial role in breaking down glycosaminoglycans (GAGs).…

  • Mixed Hepatic Porphyria

    Mixed Hepatic Porphyria: Definition and Description of Mixed Hepatic Porphyria: Mixed Hepatic Porphyria is a rare genetic disorder that affects the body’s ability to produce heme, an essential component of hemoglobin in red blood cells. This condition results from mutations that disrupt the enzymatic processes involved in heme synthesis, particularly affecting the liver. Individuals with…

  • Lymphangioleimyomatosis

    Lymphangioleimyomatosis Definition and Description of Lymphangioleimyomatosis Lymphangioleimyomatosis (LAM) is a rare, progressive lung disease primarily affecting women, typically during their reproductive years. It is characterized by the abnormal growth of smooth muscle cells in various body tissues, notably in the lungs, lymphatic system, and kidneys. These growths can lead to the obstruction of airways and…

  • Lennox-Gastaut Syndrome

    Lennox-Gastaut Syndrome Definition and Description of Lennox-Gastaut Syndrome Lennox-Gastaut Syndrome (LGS) is a severe form of epilepsy that typically emerges during childhood. Characterized by multiple types of seizures, including tonic (stiffening), atonic (drop seizures), and atypical absence seizures, LGS often leads to significant cognitive impairment. The diagnosis is usually made in children between ages 3…