Energy Metabolism in Branched-chain Organic Acidemias

German Diabetes Center

Status: Completed

Conditions: Energy Metabolism; Insulin Resistance; Metabolic Syndrome

Treatments: Other: No intervention

Study type: Observational

Funder types: Other

Identifiers

NCT03917212

MITO-MRS

Details and patient eligibility

About

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

Full description

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.

Enrollment: 57 patients

Sex: All

Ages: 5+ years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

57 participants in 2 patient groups

Patients

Description:

Patients with propionic acidemia, isovaleric acidemia, methylmalonic acidemia

Treatment:

Other: No intervention

Controls

Description:

Healthy humans

Treatment:

Other: No intervention