Hypermetabolism Due to Defect in Mitochondria, Luft Disease
Conditions
Brief summary
In the Metabolic Disorder clinic at The Hospital for Sick Children, the investigators identified a male, proband with possible Luft's disease. The investigators hypothesize that Luft's disease is caused by excess or dysregulation of brown/beige fat tissue. To address the hypothesis, the investigators would like to assess brown fat distribution and activity in this subject.
Detailed description
The subject will undergo a fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography (18F FDG PET/CT) at the Diagnostic Imaging unit of The Hospital for Sick Children.
Interventions
DIAGNOSTIC_TEST18F FDG PET/CT
18F FDG PET/CT imaging (fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography).
Sponsors
The Hospital for Sick Children
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
9 Years to 18 Years
Healthy volunteers
No
Inclusion criteria
* Diagnosis of hypermetabolism, possible Luft's disease.
Exclusion criteria
* None
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Brown/beige fat tissue distribution and activity. Measurement tool- 18F FDG PET/CT (fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography) | 1 day | Areas of 18F-FDG uptake on PET colocalizing with regions of fat will be identified on CT (-250to -10 Hounsfield Units) and quantified by Standard Uptake Value (SUV). |
Countries
Canada
Outcome results
None listed