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  • Writer's pictureSinead Mackintosh

Genetic Metabolic Disorders

Genetic metabolic disorders are inherited conditions caused by harmful changes in enzymes or metabolic pathways that affect the body's ability to process specific substances, such as carbohydrates, fats, or proteins. These disorders can lead to various symptoms, including developmental delays, intellectual disabilities, organ damage, and seizures. Some common genetic metabolic disorders include:


1. Phenylketonuria (PKU): an inability to process the amino acid phenylalanine, which can cause intellectual disabilities.


2. Tay-Sachs disease: a disorder that affects the breakdown of fatty substances in the body, leading to the degeneration of brain tissue.


3. Gaucher disease: a condition that results from the accumulation of a fatty substance called glucocerebroside, leading to organ damage.


4. Pompe disease: a disorder that affects the breakdown of glycogen, leading to muscle weakness and respiratory problems.


5. Fabry disease: a condition that affects the breakdown of a fatty substance called globotriaosylceramide, leading to organ damage and pain.


Treatment for genetic metabolic disorders typically involves managing symptoms and avoiding substances that the body cannot process, such as certain foods or drugs. In some cases, enzyme replacement therapy or gene therapy may be possible to help alleviate symptoms.



And always, please speak to a healthcare provider!




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