Energy Metabolism in Branched-chain Organic Acidemias

German Diabetes Center57 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Energy Metabolism Metabolic Syndrome Insulin Resistance

Interventions

No interventionOTHER

No intervention, observational study with metabolic characterisation

Eligibility

Sex: ALLMin age: 5 YearsHealthy volunteers:

Medical Language ↔ Plain English

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

Locations (2)

Department of General Pediatrics, Neonatology and Pediatric Cardiology of the University Children's Hospital Düsseldorf

Düsseldorf, North Rhine-Westphalia, Germany

Institute for Clinical Diabetology, German Diabetes Center

Düsseldorf, North Rhine-Westphalia, Germany

Outcomes

Primary Outcomes

Hepatic and skeletal muscle energy metabolism

Hepatic and skeletal muscle energy metabolism assessed by magnetic resonance spectroscopy

Time frame: At baseline

Secondary Outcomes

Insulin sensitivity

Insulin sensitivity measured from oral glucose tolerance test

Time frame: At baseline

Data from ClinicalTrials.gov

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