A
B
C
D
E
F
G
H
I
K
L
M
N
P
R
S
T
V
W
Galactosemia
Galactosemia

Inborn errors of metabolism
Definition:
Inborn errors of metabolism occur from a group of rare genetic disorders in which the body cannot metabolize food components normally. These disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components.

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

Side Effects:
The buildup of the product that is unable to be metabolized can cause a wide array of symptoms depending on the defect. Several inborn errors of metabolism cause mental retardation if not controlled. Please see each specific disease for exact symptoms.
Recommendations:
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:
  • A genetic disorder in 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, etc), corn syrups, honey, sorbitol, levulose, invert sugar, and some vegetable and starches.
  • It is recommended that all fructose 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:
  • A genetic disorder in 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):
  • A rare genetic disorder in 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.
  • Treatment includes a special diet. Strict compliance is necessary to prevent neurological damage. This requires close supervision by a registered dietitian or physician, and cooperation by parent(s).
Phenylketonuria (PKU):
  • A rare genetic disorder that can result in severe progressive mental retardation if untreated by diet. Most states require blood or urine testing for PKU is all newborns.
  • A low phenylalanine diet is required. Strict compliance to the diet is necessary to reduce or prevent mental retardation. This requires close supervision by a registered dietitian or physician, and cooperation of the parent(s) and child.
Review Date: 8/22/2001
Reviewed By: Elizabeth Hait, M.D., Department of Pediatrics, Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, OH. Review provided by VeriMed Healthcare Network.
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2003 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com