Table 3 Prevalence of extra-hepatic manifestations in CDG patients
CDG | Hematological abnormalities | Coagulation abnormalities | Dyslipidemia | Hypothyroidism | Glucose homeostasis | Seizures |
|---|---|---|---|---|---|---|
PMM2 | 3/15 | 12/15 | 4/11 | 6/15 | 8/13 | 8/16 |
ALG6 | N/A | 1/1 | 0/1 | 0/1 | 0/1 | 1/1 |
ALG8 | 0/1 | 1/1 | N/A | 0/1 | 0/1 | 1/1 |
ALG12 | N/A | 2/2 | 0/2 | 0/2 | 0/2 | 0/2 |
ALG13 | 0/2 | 0/2 | 1/1 | 0/2 | 0/2 | 2/2 |
CCDC115 | 0/1 | 0/1 | 1/1 | N/A | 0/1 | 0/1 |
DDOST | 0/1 | 0/1 | 1/1 | 0/1 | 1/1 | 0/1 |
DHDDS | 1/2 | 0/2 | 2/2 | 0/2 | 2/2 | 1/2 |
MPI | 0/1 | 1/1 | N/A | 1/1 | 1/1 | 1/1 |
PGM1 | 1/2 | 2/2 | 0/1 | 1/2 | 2/2 | 0/2 |
SLC10A7 | 0/1 | 1/1 | 1/1 | 0/1 | 0/1 | 0/1 |
SLC35A2 | 1/2 | 0/2 | 1/1 | 0/2 | 1/2 | 2/2 |
SLC35C1 | 0/1 | N/A | N/A | 0/1 | 0/1 | 0/1 |
SLC39A8 | 0/1 | 0/1 | N/A | 0/1 | 0/1 | 1/1 |
TMEM165 | 0/1 | 0/1 | 1/1 | 0/1 | 0/1 | 1/1 |
VMA21 | 0/1 | 0/1 | 1/1 | 0/1 | 0/1 | 0/1 |