Inborn errors of metabolism

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Galactosemia

Inborn errors of metabolism

Alternative Names:

Galactosemia - nutritional considerations; Fructose intolerance - nutritional considerations; Maple sugar urine disease (MSUD) - nutritional considerations; Phenylketonuria (PKU) - nutritional considerations; Branched chain ketoaciduria - nutritional considerations
Recommendations:

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Inborn errors of metabolism often demand diet changes. The type and extent of the changes depends on the specific metabolic error. Registered dietitians and physicians can help with the diet modifications needed for each disease.

The following are some examples of inborn errors of metabolism.

FRUCTOSE INTOLERANCE

Fructose intolerance is a genetic disorder involving the breakdown of the carbohydrate fructose. It is potentially life-threatening but may be treated by diet changes.

Food sources of fructose include fruits, fruit juices, sucrose (all sugars -- cane, beet, white, brown), corn syrups, honey, sorbitol, levulose, invert sugar, and some vegetable and starches.

All fructose should be avoided in the diet. The severity of the restriction depends on individual tolerance. Sugar and fructose are found in many foods, making the diet difficult to follow.

GALACTOSEMIA

Galactosemia is a genetic disorder involving the breakdown of the carbohydrate galactose to glucose. It can result in cataracts, enlarged liver, enlarged spleen and mental retardation. Typically, the disease is found in milk-fed infants shortly after birth. This is because milk contains large amounts of galactose.

Food sources of galactose include mammalian milks, dairy products and foods containing them.

It is recommended that milk and milk products should be avoided, including yogurt, cheese, ice cream. Galactose and lactose-free milk substitutes and foods should be used. Other sources of galactose may include sugar beets, gums, seaweed, flaxseed, mucilage, whey, some vegetables, etc. Women who carry the genetic trait should also follow the diet since galactose may cause mental retardation to the fetus. Contact a registered dietitian for complete information on a galactose free diet.

MAPLE SUGAR URINE DISEASE (MSUD)

Maple sugar urine disease is a rare genetic disorder involving the breakdown of the branch chain amino acids valine, leucine, and isoleucine. Typically the disease is found shortly after birth and is characterized by maple syrup odor of the urine, vomiting, refusal to eat, and increased reflex actions. If left untreated, life-threatening neurological damage may result.