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Diet-Affected Genetic Metabolic Disorders

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  • 0:01 Metabolic Disorders
  • 1:52 Phenylketonuria
  • 3:14 Maple Syrup Urine Disease
  • 4:27 Lesson Summary
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Instructor: Rebecca Gillaspy

Dr. Gillaspy has taught health science at University of Phoenix and Ashford University and has a degree from Palmer College of Chiropractic.

This lesson covers diet-affected metabolic disorders, which are genetic diseases that interfere with the body's ability to break down substances and require a special diet that avoids these substances. Learn about two disorders: PKU and MSUD.

Metabolic Disorders

Parents give their children many wonderful gifts. They provide all of the basic necessities of life, such as food and shelter, as well as some extras, like hugs and kisses. However, sometimes parents pass along things that children would rather not receive, such as a faulty gene that results in a metabolic disorder.

Metabolic disorders are inherited diseases that interfere with the body's ability to break down certain substances. For example, the body might be missing an enzyme that is needed to break down certain amino acids. Because they cannot be processed, these substances accumulate in the body and cause damage. Many people who are born with a metabolic disorder need to follow a special diet that limits or avoids the substances they cannot metabolize.

There are different types of metabolic disorders that affect different nutrients. For example, sugar metabolism is affected by diabetes, which is a metabolic disorder characterized by problems with glucose metabolism, and galactosemia, which is a metabolic disorder that affects the way galactose is metabolized. Fats can be a problem for some people affected by a metabolic disorder. For example, Gaucher's disease is a metabolic disorder characterized by problems with fat metabolism.

In this lesson, we will take a close look at two diet-affected genetic metabolic disorders that involve the metabolism of amino acids: phenylketonuria and maple syrup urine disease. Both of these metabolic disorders are inherited recessive genetic diseases, which means two copies of the bad gene, one from mom and one from dad, must be passed on to the child for the disease to develop.

Phenylketonuria

Phenylketonuria, or PKU for short, is a genetic disorder in which the enzyme phenylalanine hydroxylase (PAH) is missing. PAH is needed to break down the amino acid phenylalanine. The result is an accumulation of phenylalanine in the blood and brain. If left untreated, this toxic buildup can damage nerve cells and cause brain damage.

Problems with PKU start at birth. Individuals born with PKU must avoid ingesting food and food components that contain phenylalanine. This is a challenge because the amino acid is part of most protein-containing foods. To complicate matters further, we see that phenylalanine is an essential amino acid, so it is required in small amounts. Therefore, people with this condition must drink special medical formulas that are synthetically made to provide the vital nutrients.

Interestingly, a person with PKU must also avoid low-calorie foods and diet beverages that contain the artificial sweetener aspartame. Phenylalanine is a component of aspartame, making it off limits for anyone suffering from PKU. In fact, you can find warnings on aspartame-containing food items that alert consumers of the presence of this ingredient.

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