Table 6. [Recommended Surveillance for Individuals with FBXL4-Related mtDNA Depletion Syndrome]. - GeneReviews®

System/Concern	Evaluation
Eyes	Ophthalmologic eval
ENT/Mouth	Hearing eval
Cardiovascular	Echocardiogram & electrocardiogram to monitor for development of cardiomyopathy &/or arrhythmia, respectively
Gastrointestinal	Continued assessment of nutrition & growth
Measurement of serum lactate, electrolytes, & liver function tests w/AST/ALT, bilirubin, total protein, albumin, & coagulation profile
Neurologic	Regular neurologic evals & developmental assessments
Immunologic	Complete blood count

From: FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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