Energy Metabolism in Branched-chain Organic Acidemias

Non-invasive Measurement of Energy Metabolism in Patients With Primary and Secondary Mitochondrial Diseases

Energy metabolism and insulin sensitivity were assessed in a case-control study in patients with branched-chain organic acidemias.

Children and adults with branched-chain organic acidemias and matched healthy humans underwent deep metabolic phenotyping using non-invasive magnetic resonance spectroscopy, oral glucose tolerance tests and measurements of leucocyte respirometry in order to assess changes in energy metabolism and insulin sensitivity.

Inclusion Criteria:

• known branched-chain organic acidemia diagnosed by enzymatic or genetic test
• age>5 years

Exclusion Criteria:

• acute inflammatory conditions with fever, cold symptoms, gastro-intestinal infection within the last 24 hours
• contraindications for an oral glucose tolerance test such as fasting blood glucose >126 mg/dl, severe chronic gastrointestinal conditions, allergy against black currant
• contraindications for magnetic resonance tomography (MRT) such as claustrophobia, metallic implants which are not MRT compatible