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.
People with protein disorders can’t break down certain amino acids. This means they have to stick carefully to a low-protein diet. Careful eating choices reduce exposure to the amino acids in food that cause problems.
It's important that patients also take nutritional supplements of the amino acids and other nutrients our bodies need to work properly. Healthcare professionals help patients achieve this important balance by prescribing specialist medical foods for special medical purposes.
Since the 1960s, we’ve been developing products to support many of our patients with inherited metabolic disorders. Our patients have lifelong conditions, and we're proud to be their partner for life. We hold events for patients, their families and carers, where we support them and they can meet and support each other – there’s a real sense of community. We provide low protein cookery classes to help families with mealtimes, and to show patients how to make the most of what they can eat. We have also developed a LowPro App to make tracking and managing the low protein diet simpler for patients.
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