Tag: supportive care

  • 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…

  • Myelodysplastic Syndrome (MDS)

    Myelodysplastic Syndrome (MDS): Definition and Description of Myelodysplastic Syndrome (MDS): Myelodysplastic Syndrome (MDS) is a group of hematological disorders characterized by ineffective blood cell production in the bone marrow. This syndrome results in inadequate production of one or more types of blood cells, including red blood cells, white blood cells, and platelets. MDS can manifest…

  • Lysosomal Storage Disorders

    Lysosomal Storage Disorders Definition and Description of Lysosomal Storage Disorders Lysosomal Storage Disorders (LSDs) are a group of inherited metabolic conditions that result in the malfunction of lysosomes, which are cellular organelles responsible for breaking down waste materials and cellular debris. When lysosomes do not function properly, harmful substances can accumulate in cells, leading to…

  • Jansen Disease

    Jansen Disease Definition and Description of Jansen Disease Jansen Disease is a rare genetic disorder that affects bone metabolism, primarily resulting in a condition known as hyperphosphatasia. It is characterized by elevated levels of alkaline phosphatase in the blood, which can lead to abnormal bone development. This condition is typically caused by mutations in the…

  • Indiana Type Amyloidosis (Type II)

    Indiana Type Amyloidosis (Type II) Definition and Description of Indiana Type Amyloidosis (Type II) Indiana Type Amyloidosis (Type II) is a rare form of amyloidosis characterized by the deposition of amyloid proteins in various tissues and organs, primarily associated with chronic inflammatory conditions. These amyloid proteins, which are misfolded proteins, can accumulate in organs such…

  • Gangliosidosis GM2 Type 2

    Gangliosidosis GM2 Type 2 Definition and Description of Gangliosidosis GM2 Type 2 Gangliosidosis GM2 Type 2, also known as Tay-Sachs disease, is a genetic disorder that affects the body’s ability to break down certain fats known as gangliosides. This condition is caused by a deficiency in the enzyme Hexosaminidase A (Hex-A), which is essential for…

  • Cryptococcic Meningitis

    Cryptococcic Meningitis Definition and Description of Cryptococcic Meningitis Cryptococcic meningitis is a serious fungal infection that affects the protective membranes covering the brain and spinal cord, known as the meninges. It is primarily caused by the fungus Cryptococcus neoformans, which is commonly found in soil, decaying wood, and bird droppings. This infection is particularly dangerous…