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Table 1 Education modules explaining IEM and their treatment

From: Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

Main domain

Content

Available as print versiona

Available as video sequencea

The body

The body is built of cells

x

 

Cells contain the “body construction plan”

x

 

Patterns of inheritance

Autosomal recessive

x

 

Autosomal dominant

x

 

X-chromosomal recessive

x

 

X-chromosomal dominant

x

 

The healthy body

Building blocks for the body from foods and other sources

x

x

Enzymes at work in a healthy cell

x

x

Enzyme defects

…in intoxication-type diseases

x

x

…in storage diseases

x

x

…in diseases where important substances cannot be produced

x

x

Treatment

Medicine

…for intoxication-type diseases

x

x

…for storage diseases

x

x

…for diseases where important substances cannot be produced

x

x

Diet

…for intoxication-type diseases

x

x

…for storage diseases

x

 

…for diseases where important substances cannot be produced

x

x

Enzyme helper

…for intoxication-type diseases

x

x

…for storage diseases

x

x

…for diseases where important substances cannot be produced

x

 

Enzyme replacement

…for intoxication-type diseases

x

x

…for storage diseases

x

x

…for diseases where important substances cannot be produced

x

 

Emergency situations

Be careful! Recognize dangerous situations (vomiting, fever etc.)

x

x

  1. aVideo sequences were produced based on the print versions, which were tested in healthy children and adolescents as well as patients. All materials are available at [13]
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172