Tag: complications

  • Hydrocephalus

    Hydrocephalus Definition and Description of Hydrocephalus Hydrocephalus, often termed “water on the brain,” is a neurological condition characterized by an abnormal accumulation of cerebrospinal fluid (CSF) within the ventricles of the brain. This can lead to increased intracranial pressure, resulting in enlargement of the head among infants and potentially severe brain damage if left untreated.…

  • Hyperammonemia due to Ornithine Transcarbamylase Deficiency

    Hyperammonemia due to Ornithine Transcarbamylase Deficiency Definition and Description of Hyperammonemia due to Ornithine Transcarbamylase Deficiency Hyperammonemia is a condition characterized by elevated levels of ammonia in the blood, which can lead to serious neurological issues if left untreated. One specific cause of hyperammonemia is Ornithine Transcarbamylase (OTC) deficiency. OTC is an enzyme that plays…

  • Hypoparathyroidism

    Hypoparathyroidism Definition and Description of Hypoparathyroidism Hypoparathyroidism is a rare endocrine disorder characterized by insufficient production of parathyroid hormone (PTH). This hormone is crucial in regulating calcium and phosphate levels in the blood. When PTH levels drop, it leads to a decrease in calcium levels (hypocalcemia) and can cause various health issues. Individuals with hypoparathyroidism…

  • IBS-D

    IBS-D Definition and Description of IBS-D Irritable Bowel Syndrome with Diarrhea (IBS-D) is a chronically recurring gastrointestinal disorder characterized by abdominal discomfort, cramping, and frequent diarrhea. The symptoms primarily affect the large intestine or colon and may vary in intensity and frequency. IBS-D is classified within the broader category of IBS, which can also include…

  • Human Cytomegalovirus Infection

    Human Cytomegalovirus Infection Definition and Description of Human Cytomegalovirus Infection Human Cytomegalovirus (HCMV) infection is caused by the cytomegalovirus, a member of the herpesvirus family. This virus is widespread and can infect individuals of all ages. While it often lies dormant in the body after initial infection, it can reactivate, particularly in immunocompromised individuals. HCMV…

  • Human Immunodeficiency Virus (HIV)

    Human Immunodeficiency Virus (HIV) Definition and Description of Human Immunodeficiency Virus (HIV) Human Immunodeficiency Virus (HIV) is a virus that attacks the body’s immune system, specifically the CD4 cells (T cells), which are crucial for fighting off infections. If left untreated, HIV reduces the number of these cells, making the body more vulnerable to infections…

  • Hunter Syndrome

    Hunter Syndrome Definition and Description of Hunter Syndrome Hunter Syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare genetic disorder that primarily affects males. It is caused by the deficiency of an enzyme called iduronate-2-sulfatase, which is essential for the breakdown of complex carbohydrates known as glycosaminoglycans (GAGs). When this enzyme is…

  • Huntington’s Chorea (HD)

    Huntington’s Chorea (HD) Definition and Description of Huntington’s Chorea (HD) Huntington’s Chorea, also known as Huntington’s Disease (HD), is a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms. This condition is caused by a genetic mutation in the HTT gene, which leads to the production of an abnormal form of…

  • Huntington’s Disease (HD)

    Huntington’s Disease (HD) Definition and Description of Huntington’s Disease (HD) Huntington’s Disease (HD) is a progressive neurodegenerative disorder caused by a genetic mutation in the HTT gene. This mutation leads to the production of a toxic protein, which gradually damages brain cells, particularly in areas that control movement, mood, and cognition. The condition typically manifests…

  • Hurler Disease

    Hurler Disease Definition and Description of Hurler Disease Hurler Disease, also known as mucopolysaccharidosis type I (MPS I), is a rare genetic disorder caused by the deficiency of an enzyme called alpha-L-iduronidase. This enzyme is crucial for breaking down certain complex carbohydrates, known as glycosaminoglycans (GAGs), in the body. The accumulation of these GAGs can…