Genetic Diagnosis in Inborn Errors of Metabolism
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: IEM-EP.
- Who it may be relevant to
- Registry conditions: Metabolic Disease, Mitochondrial Diseases, Epilepsy in Children, Epilepsy. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Center list to be confirmed — check the primary protocol.
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Genetisk Diagnostik Vid medfödda Metabola Sjukdomar
Overview
Inborn Errors of metabolism comprise a large number of rare conditions with a collective incidence of around 1/2000 newborns. Many disorders are treatable provided that a correct diagnosis can be established in time, and for many diseases novel therapies are being developed. Without treatment, many of the conditions result in early death or severe irreversible handicaps. The Centre for Inherited Metabolic Diseases, CMMS at Karolinska university hospital, is an integrated expert center where clinical specialists work closely together with experts in laboratory medicine, combining clinical genetics, clinical chemistry, pediatrics, neurology, and endocrinology. The center serves the whole Swedish population with diagnostics and expert advice on IEM and has a broad arsenal of biochemical investigations designed to detect defects in intermediary metabolism.
Detailed description
Approximately one in two thousand infants is born with a metabolic disorder that often leads to brain damage. By means of high-tech genetic mapping using whole genome sequencing (WGS), the investigators have discovered the molecular foundations for several of these diseases.
For investigation of mitochondrial diseases, mitochondria are isolated from muscle biopsies for analysis of ATP production using a range of substrate combinations, determination of activities of respiratory chain complexes, and analysis of nuclear and mitochondrial DNA.
The center also performs the national neonatal screening program, currently comprising 26 treatable diseases. Dried blood spot samples (DBS) are stored in the phenylketonuria (PKU) biobank, currently (2026) holding around 5 million of Sweden's 10.6 million inhabitants.
Many metabolic disorders, however, lack effective counter-measures.
Interventions
- Genetic IEM-EP
Data from IEM-inborn error of metabolism cohort of individuals
Primary outcome measures
- Genetic variant identification using NGS for diagnosis [Time frame: Through study completion, an average of 1 year.]
Eligibility criteria
Inclusion criteria
- Medical inferral, suspicion metabolic disease incl epilepsy and their relatives
Exclusion criteria
- Disease other than metabolic
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
Center list to be confirmed — check the primary protocol.
Identifiers
NCT: NCT06376279 · 2008/351-31