What are Inherited Metabolic Disorders?

Inherited metabolic disorders, sometimes called inborn errors of metabolism or congenital metabolic diseases are a large group of genetic disorders of metabolism.  There are many different types including those that affect protein metabolism.  Most inherited metabolic disorders are due to defects of single genes which code for enzymes that enable one product in the body to be converted into another.  The metabolic disorder can cause a problem for a number of reasons:

  • There is a build-up of a toxic substance because of the lack of enzyme to convert one substance into another
  • The substance which accumulates interferes with normal metabolism
  • There may be reduced ability to make essential compounds in the body.

How common are inherited metabolic disorders?

Inherited metabolic disorders are rare. Phenylketonuria (PKU) which is the most common inherited disorder of protein metabolism has an incidence of approximately 1 in 10,000 births. Other disorders like Tyrosinaemia (1 in 100,000 births) and Maple Syrup Urine Disease (MSUD) (1 in 300,000 births) are even rarer.

How are disorders of protein metabolism treated?

Disorders of protein metabolism are often treated with a low protein diet which a dietitian will provide detailed advice about.  Restricting dietary protein can be tricky but there are many low protein products available to help with dietary compliance.  In many of the conditions a supplement of essential amino acids (excluding the amino acid which causes a problem) must be taken.  Following the specific dietary advice carefully will keep you healthy and allow you to lead as full and active a life as possible.

The Juvela Low Protein Team are also doing our best to develop low protein recipes to make your diet as varied as possible, so that you are not missing out at mealtimes!

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