Management Guidelines
No clinical practice guidelines for TANGO2 deficiency have been published.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with TANGO2 deficiency in acute metabolic crisis, the evaluations summarized in are recommended. To establish the extent of disease and needs in all other individuals diagnosed with TANGO2 deficiency, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 4a.
Recommended Evaluations Following Initial Diagnosis in Individuals with TANGO2 Deficiency in Acute Metabolic Crisis
System/Concern | Evaluation | Comment
General
| For those w/new diagnosis in acute metabolic crisis, admit to ICU for observation |
Neurologic
| Neurologic assessment of mental status, gait, strength |
Metabolic
| • Blood glucose, CK, ALT, AST
Chemistry panel incl serum Mg
Plasma lactate troponin
Global MAPS if feasible
|
Feeding/Nutrition
| Assess nutrition, swallowing, ability for oral intake vs need for NGT, IV, TPN | Dysphagia can be episodic, w/ risk of aspiration due to inability to manage secretions liquids.
Cardiovascular
| • Continuous bedside rhythm monitoring should be initiated immediately continued throughout hospitalization to assess for ventricular ectopy life-threatening ventricular arrhythmias until crisis resolves.
Obtain EKG to measure QTc assess for Brugada pattern
Echocardiogram to assess ventricular function
Source: GeneReviews — "TANGO2 Deficiency"
