Table 1 Studies on therapy and PMM2-CDG disease modeling with intervention
From: Unsuccessful intravenous D-mannose treatment in PMM2-CDG
Description | Subject | Mutation | Outcome | Reference |
|---|---|---|---|---|
Continuous infusion of D-mannose (0.8 g/kg/day), for 5 months during the first year of life | Human | c.422G > A (p.Arg141His) and c.691G > A (p.Val231Met). | Unsuccessful | This study |
Oral acetazolamide dosages from 6.8 to 16.7 mg/kg per day were well tolerated. Treatment lasted 6-months, followed by a randomized 5-week withdrawal phase. | Human | 24 subjects with various mutations | Clinical improvement of cerebellar syndrome | Ann Neurol. 2019;85:740–51. |
Five children with PMM2-CDG, received enteral supplementation with d-mannose 100 mg/kg every 3 h for 9 d. | Humans | F119 L/R141H R141H/unknown | Unsuccessful | Acta Paediatr. 1998;87:884–8. |
Continuous infusion of mannose 5.7 g/kg/day, for 3 weeks, within first year of life. Stable serum mannose levels up to 2.0 mmol/L were maintained. No signs of liver or renal toxicity. | Humans | Not reported | Unsuccessful | Acta Paediatr. 1997;86:1138–40. |
Oral doses of 0.17 g (1.0 mmol) mannose/kg body weight every 3.5 h, for 6 months. Patient was 12 months old at start of treatment. | Human | Phe119Leu/ Arg141His | Unsuccessful | Eur J Pediatr. 1998;157:605–6. |
Cultured fibroblasts, 0.25 mmol/L D-mannose added to the culture medium | Human fibroblasts | Not reported | N-linked glycosylation restored to normal | J Clin Invest. 1996;97:1478–87. |
Cultured fibroblasts, 1 mmol/L D-mannose added to the culture medium | Human fibroblasts | Not reported | Recovery of GDP-Mannose pools | Glycobiology. 2000;10:829–35. |
Cultured fibroblasts, 1 mmol/L D-mannose added to the culture medium In addition, glucose reduction from 5 mmol/L to 0.5 mmol/L improved D-mannose uptake and restoral of N-glycosylation | Human fibroblasts | Not reported | N-linked glycosylation restored to normal | Glycoconj J. 1998;15:499–505. |
Cultured fibroblasts, 0.25 mmol/L D-mannose added to the culture medium | Human fibroblasts | Not reported | N-linked glycosylation restored to normal | Biochem Mol Med. 1997;61:161–7. |
Treatment of female mice with 9 mg mannose per mL drinking water, 1 week before mating | Mice | Pmm2 R137H/F118 L embryos | Successful | Nat Med. 2011;18:71–3. |
Treatment of female mice with 9 mg mannose per mL drinking water, 1 week before mating | Mice | Pmm2 F115 L embryos | Successful | Hum Mol Genet. 2016;25:2182–93. |