Mitochondrial hepatopathy: Respiratory chain disorders- ‘breathing in and out of the liver’

Table 6 Pharmacotherapy used for mitochondrial diseases

Drug	Pediatric dose	Remark
Coenzyme Q: (1) Ubiquinol form; (2) Ubiquinone form	2-8 mg/kg/d in BD dosing; 10-30 mg/kg/d BD dosing	Preferably had after meals; Most effective and most used therapy; Free radical scavenger; Bypasses complex I
Idebenone	5 mg/kg/d	Synthetic form of CoQ; Penetrates blood-brain barrier
L-carnitine	10-100 mg/kg/d IV or oral divided 3 times/d	Avoid in long chain FAO-Ds: May lead to cardiac arrhythmias
Creatine	0.1 g/kg PO, OD	Used for repletion of muscle phosphocreatine levels
L-arginine	500 mg/kg IV per day for 1-3 d followed by 150-300 mg/kg oral daily in BD dosing	Used for acute stroke; Watch for hypotension while infusion; Evidence is anecdotal
Thiamine	100 mg/d	Cofactor of PDH; useful for thiamine responsive PDH deficiency; Helpful in leigh disease
Riboflavin	50-400 mg/d	Give at night time before sleep; Shown to be useful in ACAD9 mutations; Flavin precursor for complex I & II
Vitamin C	5 mg/kg/d OD	Antioxidant; Artificial electron acceptor
Vitamin E	Variable dosing, up to 25 IU/kg/d OD (avoid > 400 IU/d)	Absorption better when taken with meals
Dichloroacetate	25-50 mg/kg/d	Improves lactic acidosis

BD: Twice daily; CoQ: Coenzyme Q; FAO-D: Fatty acid oxidation defects; IV: Intravenous; PDH: Pyruvate dehydrogenase; PO: Per oral; OD: Once daily.