Table 3.
Agents commonly used to treat PMD and SMD
| Vitamin | Dose | Adverse effects | Function |
|---|---|---|---|
| Electron transport chain support | |||
| CoQ10 (reduced): ubiquinol | 5–30 mg/kg/day, 1–2×/day | appetite loss, nausea, diarrhea | energy carrier between complex I and III, |
| CoQ10 (oxidized): ubiquinone | 10–30 mg/kg/day, 1–2×/day | at high doses | and complex II and III |
| Electron carrier support | |||
| Niacin (B3) | 50–100 mg given daily | flushing reaction | nicotinamide adenine dinucleotide (NAD) precursor |
| Riboflavin (B2) | 100–400 mg given daily | nausea at high doses | flavin adenine dinucleotide (FAD) precursor |
| Energy Storage | |||
| Creatine monohydrate | 100 mg/kg/day; 1–2×/day | increased urination | high-energy phosphate buffer precursor to phosphocreatine |
| Fatty acid oxidation support | |||
| L-carnitine or acetyl-L-carnitine | 30–120 mg/kg/day, 1–2×/day | stool loose/fishy smell | carrier of long-chain fatty acids |
| Biotin (B7) | 5–10 mg/day given daily | none | cofactor for carboxylase enzymes |
| Mitochondrial enzyme cofactors | |||
| Thiamine (B1) | 50–100 mg given daily | none | cofactor for citric acid cycle enzymes |
| Pantothenic acid (B5) | 5–1,200 mg/day, 1–3×/day | diarrhea at high doses | precursor to coenzyme A |
| Pyridoxine (B6) | 200 mg given daily | headache, paresthesia, nausea, headache at high doses | cofactor for over 100 enzymes |
| Biotin (B7) | as above | none | cofactor for carboxylase enzymes |
| Alpha-lipoic acid | 50–200 mg given daily | headache, paresthesia, rash, muscle cramps | cofactor for citric acid cycle enzymes |
| Antioxidants | |||
| CoQ10 | as above | as above | targets ETC oxidative stress |
| L-carnitine | as above | as above | scavenger of organic acids |
| Vitamin E | 200–400 IU given daily | bleeding at high doses | protects cell membranes |
| Vitamin C | 100–500 mg given daily | diarrhea at high doses | protects iron and copper |
| Redox metabolism support | |||
| Methylcobalamin (B12) | 5–2,000 μg every 1–3 days | hyperactivity, sleep disruption | supports methylation and folate cycles, and glutathione production |
| Reduced folate (B9) | folinic acid 400–800 μg/day | none | supports methylation and folate cycles |
| N-acetyl-L-cysteine (NAC) | 10–70 mg/kg/day, 1–3×/day | diarrhea at high doses | precursor to glutathione |
| Zinc | 10–40 mg daily | suppresses iron and copper absorption | supports superoxide dismutase |
| Central folate support | |||
| Folinic acid/leucovorin calcium (B9) | 0.5–4 mg/kg/day, 1–3×/day | hyperactivity | supports adequate folate levels in the brain |