Human induced pluripotent stem cells (iPSCs), are reprogrammed from somatic cells that can self-renew indefinitely and produce different types of cells. They provide human model cell lines for orphan drug development. It is the goal of this study to define new cellular disease models for Inborn Erors of Metabolism, as enabling tools for both drug discovery and development.

Inclusion Criteria:

• Informed consent is obtained from the participant or from the parent/ legal guardian
• The participant is aged between 2 months and 50 years
• The diagnosis of an Inborn Error of Metabolism (IEM) is genetically confirmed by Centogene
• The participant is a first-degree or a second-degree relative of an individual with Inborn Error of Metabolism (IEM) genetically confirmed by Centogene

Exclusion Criteria:

• Inability to provide informed consent
• The participant is younger than 2 months or older than 50 years
• The diagnosis of an Inborn Error of Metabolism (IEM) is not genetically confirmed by Centogene and
• The participant is not a first-degree or a seconddegree relative of an individual with Inborn Error of Metabolism (IEM) genetically confirmed by Centogene
• Previously enrolled in the study

Participants with an Inborn Error of Metabolism