Table 5.

Treatment of Manifestations in Individuals with FBXL4-related mtDNA depletion syndrome

Manifestation/ConcernTreatmentConsiderations/Other
Inadequate nutrition A nasogastric tube or gastrostomy tube are frequently needed due to feeding difficulties & failure to thrive.In 1 affected child, improved nutrition resulted in improvement in hypogammaglobulinemia & neutropenia. 1
Seizures Standard treatment w/antiepileptic drugs
Immobility/wheelchair dependence Consultation w/physical medicine & rehab specialists to help w/mobility or assistive devices (e.g., wheelchair)
Cardiomyopathy & arrhythmia Standard treatment per cardiologist recommendations
Neutropenia Consider granulocyte colony stimulating factor. 2
Significant acidosis Consider bicarbonate therapy.
Cataract &/or strabismus Surgical treatment if indicated
Hearing loss Hearing aids

From: FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome

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