Inherited Metabolic Disorders
Some people are born with a genetic disorder that prevents the body from processing certain nutrients properly.
The term inherited metabolic disorder covers a wide range of conditions including disorders related to fat, carbohydrate and protein. Examples include PKU, HCU, MSUD, GA1, IVA and MMA/PA.
These hereditary disorders are most often diagnosed at birth, or early on in life. Defects with certain enzymes prevent the body from breaking down certain types of nutrients. If we can’t break down those nutrients, we can't get rid of certain chemicals, and they build up in the body over time. Without careful monitoring and dietary management, these chemicals can have various consequences, including delays in physical and mental development.
In the case of the amino acid disorder phenylketonuria (PKU), the condition stops patients from breaking down the essential amino acid phenylalanine, which we consume in the protein we eat as part of a normal diet. In PKU, phenylalanine builds up in the brain and can cause long-term health issues.
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