Tag: rare diseases

  • Transthyretin Familial Amyloid Polyneuropathy

    Transthyretin Familial Amyloid Polyneuropathy: Definition and Description of Transthyretin Familial Amyloid Polyneuropathy: Transthyretin Familial Amyloid Polyneuropathy (ATTR-FAP) is a rare hereditary disorder caused by the accumulation of amyloid proteins in various tissues and organs, particularly affecting peripheral nerves. ATTR-FAP is related to the misfolding of transthyretin (TTR), a protein produced by the liver that is…

  • Sudanophilic Leukodystrophy

    Sudanophilic Leukodystrophy: Definition and Description of Sudanophilic Leukodystrophy: Sudanophilic Leukodystrophy is a rare genetic disorder that primarily affects the myelin sheath, the protective covering of nerves in the brain and spinal cord. This condition is categorized under leukodystrophies, which are a group of inherited or acquired disorders that disrupt the growth or maintenance of the…

  • Symptomatic Porphyria

    Symptomatic Porphyria: Definition and Description of Symptomatic Porphyria: Symptomatic Porphyria refers to a group of disorders related to the accumulation of porphyrins or their precursors due to enzymatic deficiencies in the heme production pathway. These conditions can lead to a variety of symptoms affecting the skin and nervous system. The most common types of symptomatic…

  • Systemic Aleukemic Reticuloendotheliosis

    Systemic Aleukemic Reticuloendotheliosis: Definition and Description of Systemic Aleukemic Reticuloendotheliosis: Systemic Aleukemic Reticuloendotheliosis (SARE) is a rare hematological disorder characterized by the proliferation of reticuloendothelial cells, which are part of the immune system. This condition typically manifests in individuals without the presence of a notable increase in leukocytes (white blood cells) typically found in other…

  • Stevens Johnson Syndrome

    Stevens Johnson Syndrome: Definition and Description of Stevens Johnson Syndrome: Stevens Johnson Syndrome (SJS) is a rare, serious disorder of the skin and mucous membranes, primarily triggered by an adverse reaction to medications or infections. Characterized by the rapid onset of a painful rash that causes the skin to blister and peel, SJS can affect…

  • Sphingolipidosis 1

    Sphingolipidosis 1: Definition and Description of Sphingolipidosis 1: Sphingolipidosis 1, often referred to as sphingolipidosis, is a group of inherited metabolic disorders that affect the brain, spinal cord, and other organs. These conditions are characterized by the accumulation of sphingolipids—complex lipids that play vital roles in cell signaling and the protective coatings of nerve cells.…

  • Sphingolipidosis, Krabbe’s Type

    Sphingolipidosis, Krabbe’s Type: Definition and Description of Sphingolipidosis, Krabbe’s Type: Sphingolipidosis, Krabbe’s Type, commonly referred to as Krabbe disease, is a rare and inherited neurological disorder that primarily affects the nervous system. It is classified as a lysosomal storage disease, caused by a deficiency of the enzyme galactocerebrosidase (GALC). This deficiency leads to the accumulation…

  • Sphingomyelinase Deficiency

    Sphingomyelinase Deficiency: Definition and Description of Sphingomyelinase Deficiency: Sphingomyelinase Deficiency, also known as Niemann-Pick Disease type A and B, is a rare genetic disorder characterized by a deficiency of the enzyme sphingomyelinase. This enzyme plays a critical role in lipid metabolism, particularly in breaking down sphingomyelin, a type of lipid found in cell membranes. When…

  • Spielmeyer-Vogt-Batten Syndrome

    Spielmeyer-Vogt-Batten Syndrome: Definition and Description of Spielmeyer-Vogt-Batten Syndrome: Spielmeyer-Vogt-Batten Syndrome, also known simply as Batten Disease, is a rare neurological disorder primarily affecting children. This condition belongs to a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which are characterized by the accumulation of lipofuscin, a fatty substance, in the brain and other tissues.…

  • Primary Amyloidosis

    Primary Amyloidosis: Definition and Description of Primary Amyloidosis: Primary amyloidosis, also known as AL amyloidosis, is a rare disease that occurs when abnormal proteins, known as light chains, misfold and aggregate into fibrils. These fibrils deposit in various tissues and organs, disrupting normal function. The condition is often associated with an underlying plasma cell disorder…