What are special diets and inborn errors of metabolism?
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Inborn errors of metabolism are rare genetic disorders in which the body lacks the protein (enzyme) to turn certain foods into energy normally. Foods that are not broken down to produce energy can build up in a child’s system and cause illness, low blood sugar, intellectual disability, and death.
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The most common inborn error of metabolism is phenylketonuria.
How common are they?
Some of the more common inborn errors of metabolism include
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Phenylketonuria, 1 in 19,000 live births
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Medium-chain acyl-CoA dehydrogenase deficiency, 1 in 23,000 live births
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Homocystinuria, 1 in 39,000 live births
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Galactosemia, 1 in 55,000 live births
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Biotinidase deficiency, 1 in 95,000 live births
What are some characteristics of children with special diets or inborn errors of metabolism?
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Most of these children look normal at birth. However, within the first few days of life they may look jaundiced, and have trouble feeding and persistent vomiting.
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They may appear irritable or lethargic.
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Some of these children have a peculiar odor that may range from smelling like maple syrup (maple syrup urine disease) to sweaty socks (isovaleric acidemia).
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Many of these conditions are tested in the newborn screening program and can be diagnosed shortly after birth.
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Once diagnosed, the baby must be placed on a very strict diet. This diet prevents the accumulation of any substance that might build up in the child’s body and cause harm.
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Often special formulas are used beyond infancy into childhood. If the child keeps the offending food out of his diet, he may grow and develop normally.
Who is the treatment team?
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Children with inborn errors of metabolism require close supervision by a primary care provider in the medical home and registered dietitian and geneticist. The Care Plan essentially involves dietary measures and should be directed by these professionals with guidance from the child’s parents/guardians.
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The Care Plan should have emergency measures for when these children begin to appear ill.
What adaptations may be needed?
Dietary considerations
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Meet with parents/guardians prior to the child’s arrival to school or child care to discuss dietary measures in detail.
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Meet periodically with parents/guardians, especially at transition times (eg, infancy to toddlerhood, preschool to school age) to discuss new dietary plans.
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Ask parents/guardians to suggest or provide acceptable treats for their child for class parties and birthdays.
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As children notice differences in what this child can eat, use this as a teachable moment to discuss nutrition and foods that are good for growing bodies.
What should be considered an emergency?
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Inform parents/guardians immediately if the child
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Has repetitive episodes of vomiting.
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Acts unusually irritable or lethargic.
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Parents/guardians, together with the treatment team, should provide the indications for calling emergency medical services/911.
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Children with some inborn errors of metabolism may have much more devastating consequences than others when they are ill, and an emergency plan is necessary.
What types of training or policies are advised?
Dietary
What are some resources?
National Organization for Rare Disorders, 800/999-NORD (999-6673),www.rarediseases.org
Source: Managing Chronic Health Needs in Child Care and Schools: A Quick Reference Guide.
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The information contained in this publication should not be used as a substitute for the medical care and advice of your pediatrician. There may be variations in treatment that your pediatrician may recommend based on individual facts and circumstances.