Clinical manifestations and laboratory investigations in 20 CDG Ia patients
| Patients: | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | Total | Total |
| Sex | F | F | M | F | F | M | F | M | F | M | M | F | F | M | F | M | M | M | M | M | N form (n=11) | MV form (n=9) |
| First symptom | N | N | N | N | N | N | N | N | N | N | N | FT | FT | FT | FT | P | P | L | L | T | ||
| Age at diagnosis | 15 mth | 6 mth | 6 y | 15 y | 16 y | 5 y | 5 y | 11 y | 7 mth | 6 y | 9 y | 10 d | 1 mth | 4 mth | 3 mth | AD | 3 d | AD | AD | 3 mth | ||
| Dysmorphic features | + | − | + | + | + | − | − | − | − | − | − | + | + | + | + | + | + | − | − | + | ||
| Neurological symptoms | ||||||||||||||||||||||
| Hypotonia | + | + | + | + | + | − | + | − | − | + | + | + | + | + | + | + | + | + | + | + | 8/11 | 9/9 |
| Strabismus | + | + | + | + | + | + | + | + | + | + | − | + | + | + | + | + | + | − | − | − | 10/11 | 6/9 |
| Cerebellar hypoplasia | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | − | − | + | 11/11 | 7/9 |
| Psychomotor retardation | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | − | 11/11 | 8/9 |
| Areflexia | + | + | + | + | + | − | + | + | − | + | + | + | − | + | − | − | − | − | − | − | 9/11 | 2/9 |
| Seizures | − | − | − | − | + | − | − | − | + | + | + | − | − | − | + | − | − | − | − | − | 4/11 | 1/9 |
| ERG alteration | + | + | + | + | − | − | + | − | − | + | + | + | ND | + | + | + | + | ND | ND | − | 7/11 | 5/6 |
| Digestive symptoms | ||||||||||||||||||||||
| Failure to thrive (−SD) | 2 | 1.8 | − | − | − | − | − | − | − | 2 | 2 | 3 | 2 | 4 | 3 | 3 | 3 | 4 | 4 | 3 | 4/11 | 9/9 |
| Diarrhoea | − | + | − | − | − | − | + | − | − | − | − | + | + | + | − | − | − | − | − | − | 2/11 | 3/9 |
| Vomiting | − | + | − | − | − | − | − | − | + | − | − | − | − | − | − | − | − | + | + | − | 2/11 | 2/9 |
| Hepatomegaly | + | + | − | − | + | − | − | − | − | − | − | + | + | + | + | + | + | + | + | + | 3/11 | 9/9 |
| Steatorrhoea | − | − | − | − | − | − | − | − | − | − | − | ND | ND | + | − | − | − | − | − | − | 0/11 | 1/7 |
| Oedema | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | + | + | − | 0/11 | 2/9 |
| Liver histology | ND | ND | ND | ND | S | ND | ND | ND | ND | ND | ND | FC | FS | ND | ND | ND | ND | FS | FS | ND | S: 1/11 | F: 4/4 |
| Gut histology | ND | n | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | n | n | ND | ND | ND | V | V | ND | V: 2/4 | |
| Renal anomaly | ||||||||||||||||||||||
| Tubulopathy | + | + | − | − | ND | ND | ND | − | − | − | ND | − | − | − | + | + | + | − | − | + | 2/7 | 4/9 |
| Renal cysts | + | − | − | − | ND | ND | ND | − | + | − | ND | + | + | + | + | + | + | + | + | + | 2/7 | 9/9 |
| Cardiac failure | ||||||||||||||||||||||
| Pericarditis | + | − | − | − | − | − | − | − | + | − | − | + | − | − | − | + | + | − | − | − | 2/11 | 3/9 |
| Cardiomyopathy | − | − | − | − | − | − | − | − | − | − | − | + | − | − | − | − | + | − | − | − | 0/11 | 2/9 |
| Death (mth) | − | − | − | − | − | − | − | − | − | − | − | 18 | − | − | − | 12 | 4 | 5 | 3.5 | 0/11 | 5/9 | |
| Present age (y) | 4 | 3.5 | 8.5 | 19 | 17 | 6 | 4.5 | 12 | 6 | 7 | 9 | − | 4.5 | 2.5 | 5 | − | − | − | − | 0.3 | ||
| Mutations | I132T | R141H | T226S | T226S | R141H | R141H | A108V | F157S | R141H | R141H | R141H | F119L | P113L | V129M | V231M | V231M | V231M | D65Y | D65Y | ND | ||
| R123Q | I132T | R141H | R141H | I132T | C241S | R141H | C241S | I153T | E139K | E139K | R141H | R141H | R141H | R141H | R141H | R141H | R141H | R141H | ND | |||
F: female; M: male; N: neurological manifestations; FT: failure to thrive; P: pericarditis; L: liver impairment; T: tubulopathy; ND: not done; S: steatosis; C: cirrhosis; F: fibrosis; n: normal; V: intestinal villous atrophy; AD: after death; +: present; −: absent.