Skip to main content
. 2019 Nov 8;14:248. doi: 10.1186/s13023-019-1236-9

Table 1.

Education modules explaining IEM and their treatment

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

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]