TABLE 1.
Selected clinical and laboratory data in our patients compared to the described ATP6AP1‐CDG cases
| Report | Jansen et al 1 | Witters et al 6 | Dimitrov et al 7 | our report | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | |||||||
| Age | 20 y | 12 y | 34 y | 14 y | 8 y | Died 4 y | 23 y | 18 y | Died 12 m | 3 y | 4 y | 5 m | 10 y | Died 3 m | Died 11 m | |
| cDNA mutation | c.1284G>A | c.431T>C | c.1036G>A | c.1036G>A | c.1036G>A | c.938A>G | c.649T>A | c.542T>G | c.221T>C | |||||||
| Protein change | p.M428I | p.L144P | p.E346K | p.E346K | p.E346K | p.Y313C | p.Y217N | p.L181R | p.L74P | |||||||
| Clinical findings | ||||||||||||||||
| Cutis laxa | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | + | + | + | + | 4/4 |
| Abnormal liver biopsy | NA | NA | Normal | Slight steatosis | Fibrosis, steatosis, cirrhosis | Steatosis, cirrhosis | Micronodular cirrhosis | Micronodular cirrhosis | Fibrosis, steatosis, cirrhosis, cholestasis | NA | Fibrosis, steatosis, cirrhosis | Micronodular cirrhosis, steatosis | NA | Fibrosis, steatosis, cholestasis | Steatosis, cirrhosis, cholestasis | 10/11 |
| Infections | + | + | + | + | + | + | + | + | + | + | + | + | + | − | − | 13/15 |
| Hepatomegaly | +/− | − | − | − | + | + | + | + | + | + | + | + | + | + | + | 12/15 |
| Splenomegaly | − | − | − | − | + | + | + | + | + | − | − | + | + | + | + | 9/15 |
| Neonatal icterus | + | + | − | + | − | − | + | + | − | − | − | + | − | + | + | 8/15 |
| Neurologic symptoms | − | +/− | − | − | + | + | + | + | + | + | − | − | +/− | − | − | 8/15 |
| Laboratory findings | ||||||||||||||||
| Increased transaminases | +/− | +/− | +/− | +/− | +/− | +/− | + | + | + | + | + | + | + | + | + | 15/15 |
| Low serum copper and/or ceruloplasmin | + | + | NA | + | + | + | + | + | + | + | +/− | + | + | + | + | 14/14 |
| Hypogammaglobulinemia | + | + | + | + | + | + | + | + | + | + | + | − | + | − | − | 12/15 |
Abbreviation: NA, (data) not available.