Management Guidelines
No clinical practice guidelines for FASTKD2-related combined oxidative phosphorylation deficiency (FASTKD2-COXPD) have been published. In the absence of published guidelines, the following recommendations are based on recommendations for primary mitochondrial disorders, available literature on FASTKD2-COXPD, and the authors' personal experience managing individuals with this disorder .
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with FASTKD2-COXPD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 3.
FASTKD2-Related Combined Oxidative Phosphorylation Deficiency: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Development
| Developmental assessment | • To incl motor, adaptive, cognitive, speech-language eval
Eval for early intervention/ special education
Neurologic
| • Neurologic eval
Brain MRI MR spectroscopy
EEG incl video EEG
|
Gastrointestinal/
Feeding/
Nutrition
| • Gastroenterology/ nutrition/ feeding team eval
Assess growth parameters.
| • To incl eval of aspiration risk nutritional status
Consider eval for gastrostomy tube placement in persons w/dysphagia /or aspiration risk.
Eye | • Ophthalmology eval to assess for refractive errors, strabismus, nystagmus
Fundus exam for optic atrophy
ERG as clinically indicated
|
Cardiovascular
| • Echocardiography
EKG w/24-hour Holter
Cardiac MRI
Source: GeneReviews — "FASTKD2-Related Combined Oxidative Phosphorylation Deficiency"
