Krabbe disease is a rare, inherited metabolic ailment in which the body’s numerous cells and tissues accumulate dangerous levels of lipids, which can kill brain cells. A condition known as Krabbe disease, also called globoid cell leukodystrophy, is characterised by globoid cells (cells with more than one nucleus), which erode the myelin sheath that protects the nerves.

Galactocerebrosidase, a crucial enzyme for myelin metabolism, malfunctions as a result of a GALC gene deficiency, which results in patients diagnosed with Krabbe disease and the accumulation of a toxic byproduct of myelin breakdown. Although it can strike throughout adolescence or adulthood, the condition most frequently affects newborns, beginning before the age of six months.

In Gaucher disease, a hereditary condition, glucocerebroside, a sphingolipid also known as glucosylceramide, build up in cells and several organs. The condition is characterised by bruising, tiredness, anaemia, a low blood platelet count, and enlargement of the liver and spleen. It is caused by a congenital deficiency of the enzyme glucocerebrosidase, which breaks down glucocerebroside. When the enzyme is compromised, notably in macrophages and white blood cells, glucocerebroside rises.

SYMPTOMS OF KRABBE DISEASE

Patients diagnosed with Krabbe disease experience these signs:

  • the severe decline in cognition and physical abilities
  • muscle tremor
  • Hypertonia
  • Myoclonic seizures
  • Spasticity
  • Unaccounted-for fever
  • Blindness
  • swallowing challenges
  • Deafness

SYMPTOMS OF GAUCHER DISEASE

Gaucher disease symptoms include:

  • Hepatomegaly and splenomegaly without pain: The spleen can weigh up to 3000 g instead of the typical 50–200 g. Splenomegaly may make it more difficult to eat by pressing on the stomach. Spleen hypertrophy increases the likelihood of splenic rupture even though it is painless.
  • Leukopenia, Anemia, thrombocytopenia and neutropenia are caused by hypersplenism and pancytopenia, which is the rapid and untimely death of blood cells.
  • Liver cirrhosis is a rare condition.
  • There is severe joint and bone pain, which frequently manifests in the hips and knees.

CAUSES OF KRABBE DISEASE

Krabbe disease is brought on by changes in the GALC gene. Galactosylceramidase, an enzyme that degrades certain fats termed galactolipids, is made with the help of instructions provided by this gene. Myelin contains a galactolipid termed galactosylceramide, which is broken down by the enzyme galactosylceramidase. Galactosylceramide disintegration is a typical aspect of myelin turnover, which happens continuously throughout life. In the absence of galactosylceramidase, a different galactolipid known as psychosine, which is created during the synthesis of myelin, is hazardous.

Galactosylceramidase enzyme activity is significantly decreased by mutations in the GALC gene. This prevents the degradation of galactosylceramide and psychosine. In some cells, excess galactosylceramide builds up and forms globoid cells. These galactolipids build up and harm myelin-producing cells, preventing myelin from developing properly and resulting in demyelination of the nervous system. Krabbe disease symptoms and indicators result from improper signal transmission by neurons in the brain and other body regions without myelin.

CAUSES OF GAUCHER DISEASE

Gaucher disease is brought on by changes in the GBA gene. The beta-glucocerebrosidase enzyme is made using instructions from the GBA gene. A fatty compound termed glucocerebroside is broken down by this enzyme into a sugar and a more basic fat molecule. Beta-glucocerebrosidase activity is significantly reduced or eliminated by variants in the GBA gene.

Without sufficient amounts of this enzyme, cells may accumulate dangerous amounts of glucocerebroside and related compounds. The aberrant buildup and storage of these chemicals result in tissue and organ damage, which is what gives Gaucher illness its distinctive symptoms.

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