Yes, MSD (likely referring to a metabolic storage disorder) is a genetic disease.
Metabolic storage disorders are a group of inherited genetic diseases caused by defects in specific genes that encode enzymes or proteins. These enzymes and proteins are responsible for breaking down and processing various substances within cells. When these genes are mutated, the corresponding enzymes or proteins are either deficient or non-functional, leading to the accumulation of undigested or partially digested materials within the cells, tissues, and organs. This build-up disrupts normal cellular function and can cause a wide range of symptoms affecting multiple body systems.
Here's a breakdown:
- Genetic Origin: These disorders are caused by mutations in genes.
- Inheritance: Many metabolic storage disorders, including the one described as leading to regression of body systems, are autosomal recessive. This means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease. If an individual inherits only one copy, they are a carrier and usually do not show symptoms but can pass the gene to their children.
- Mechanism: The genetic defect leads to a deficiency or malfunction of an enzyme or protein involved in metabolism.
- Consequences: This leads to the accumulation of specific substances in cells, disrupting their normal function.
In the context of the provided reference stating "MSD is a rare autosomal recessive genetic disease caused by the build-up of cellular waste throughout the body and leading to regression of every body system," the answer is definitively yes, it's genetic. The description strongly suggests a specific type of metabolic storage disorder leading to severe systemic effects.
