Gaper’s disease is a genetic disorder when the body is unable to destroy certain fats, leading to the accumulation of fat in the cells. In an interview with HT Lifestyle, D -R -Ankush Golhar, liver transplant and HPB surgeon, Jupiter’s Hospital said: “Gochcher’s disease is caused voluminous. ” Also Read Genetic disorders in India: Conventional Types, Risk Factors, Prevent Transfer
Gaverra’s disease: Types and symptoms
Type 1 (non -hyaronopathic): This is the most common form and accounts for approximately 90% of all cases. First of all, it affects the spleen, liver and bone marrow, but does not affect the nervous system. Symptoms include an increase in the spleen (splenomegaly) and liver (hepatomegaly), bone or fractures, fatigue and mild bruise.
Type 2 (acute neuronopath): This form is much less and more serious, with rapid progression, leading to neurological damage. Babies with type 2 disease may experience symptoms such as poor muscle tone, seizures and developmental delay, which often lead to death at a young age.
Type 3 (chronic neuropath): Type 3 is a more moderate form of the disease, where neurological symptoms develop in childhood or adolescence. The victims may have a wide range of neurological problems, including problems with eye movements, difficulties in coordination and seizures, as well as symptoms characteristic of type 1. Also Read Andersan-Fabr disease: types, signs and symptoms, diagnostics, treatment of rare genetic disorders that affect organs
Gaverra’s disease: Diagnosis and Treatment
“Diagnosis of Gaugheral’s disease usually includes a combination of clinical evaluation, family history and laboratory tests. A blood test for measuring the activity of glucockerbrosidase enzyme is crucial when detecting disorders. Genetic testing can confirm the diagnosis by detecting mutations in the GBA gene.”
While the disease is no treatment yet, it can be treated. Basic Treatment options:
Substituent Enzyme Therapy (ERT): This includes regular intravenous infusions of a synthetic version of the missing enzyme. It has been shown that ERT reduces the size of the spleen and liver, improves bone health and ease other symptoms, although it does not solve neurological problems associated with type 2 and type 3.
Substrate recovery therapy (SRT): This oral medicine helps reduce glucoccerbrazide production, thus preventing its accumulation in cells. Usually it is used for patients who cannot walk for or for people with softer forms of the disease. Also Read What is hemoromatosis, a rare genetic disorder that causes organs?
Note for readers: This article is intended only for information purposes rather than to replace professional medical advice. Always seek the advice of a doctor with any medical issues.
