Table 1.
CDG-I conditions and common symptoms
| CDG name | Affected protein/gene | Common symptoms |
|---|---|---|
| PMM2-CDG | Phosphomannomutase 2 | Cognitive/motor dysfunction (de Lonlay et al. 2001), failure to thrive, liver disease, developmental delay (Drouin-Garraud et al. 2001), coagulopathy (Van Geet and Jaeken 1993) and infection (Matthijs et al. 1997) |
| MPI-CDG | Mannose-6-phosphate-isomerase | Coagulopathy (Marquardt and Denecke 2003) |
| ALG3-CDG | Dolichyl-P-Man: Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase | Cognitive/motor dysfunction (de Lonlay et al. 2001) and failure to thrive (Kranz et al. 2007) |
| ALG12-CDG | Dolichyl-P-Man: Man(7)GlcNAc(2)-PP-dolichyl-alpha-1, 6-mannosyltransferase | Cognitive/motor dysfunction, (Thiel et al. 2002), failure to thrive and infection (Chantret et al. 2002) |
| ALG8-CDG | Dolichyl-pyrophosphate Glc Man9GlcNAc2alpha-1,3-glucosyltransferase | Coagulopathy (Chantret et al. 2003) |
| ALG2-CDG | Alpha-1,3-mannosyltransferase | Cognitive/motor dysfunction, coagulopathy and liver disease (Thiel et al. 2003) |
| ALG1-CDG | Chitobiosyldiphosphodolichol beta-mannosyltransferase | Cognitive/motor dysfunction (Dupré et al. 2010) and coagulopathy (Kranz et al. 2004) |
| ALG9-CDG | Alpha-1,2-mannosyltransferase | Cognitive/motor dysfunction, cerebral atrophy, delayed myelination, epilepsy, failure to thrive, liver disease and skeletal dysplasia (Weinstein et al. 2005; Frank et al. 2004; AlSubhi et al. 2016) |
| PGM1-CDG | Phosphoglucomutase 1 | Hypergonadotropic hypogonadism and growth retardation (Tegtmeyer et al. 2014) |
| MAN1B1-CDG | Alpha-1, 2-mannosidase | Cognitive/motor dysfunction (Rafiq et al. 2011) |