LSD Overview: Understanding Diagnosis, prognosis & management

Speciality: Gene & Cell Therapy


Speaker:

Dr. Priyanshu Mathur (Speaker) | Consultant and Clinical Geneticist, Dept. of Pediatrics,

Dr. Mamta Muranjan (Speaker) | Professor of Pediatrics & In-charge of Genetic Clinic, KEM Hospital, Parel, Mumbai, India.

Description:

A warm welcome to all the medical professionals in this interesting session on LSD Overview: Understanding Diagnosis, prognosis & management
Lysosomal Storage Disorders (LSDs) are a group of rare, inherited metabolic diseases caused by enzyme deficiencies that lead to the accumulation of undigested molecules within the lysosomes of cells. This accumulation disrupts normal cellular function and can affect multiple organs, including the brain, liver, spleen, and bones. Diagnosing LSDs can be challenging due to their wide range of symptoms and the rarity of these conditions. Early diagnosis is crucial and typically involves a combination of clinical evaluation, genetic testing, and enzyme activity assays.
The prognosis for individuals with LSDs varies widely depending on the specific disorder, the severity of symptoms, and the timing of diagnosis and treatment. Some LSDs are life-threatening, especially if not treated early, while others may have a more manageable course. Advances in treatment, such as enzyme replacement therapy (ERT), substrate reduction therapy, and hematopoietic stem cell transplantation, have significantly improved outcomes for many LSD patients. However, treatment effectiveness can vary, and some therapies may only alleviate symptoms rather than cure the disease.
Therefore, get an overall knowledge of LSD overview: understanding diagnosis, prognosis & management
 

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