Table 1.
Summary of clinical features
| Clinical features reported in EE | Absent or present (− or +) |
| Failure to thrive | − |
| Retinal lesions with tortuous vessels | n/a |
| Orthostatic acrocyanosis | − |
| Chronic diarrhea | − |
| Petechiae | − |
| Coma/encephalopathy | During metabolic decompensation |
| Developmental regression | − |
| Developmental delay | + |
| Intellectual disability | + |
| Pyramidal symptoms | + |
| Ataxia | + |
| Hypotonia | − |
| Seizures | During metabolic decompensation |
| Hyperintense lesions in the basal ganglia on MRI | + |
| Other clinical features not reported in EE | |
| Trismus | During first hospitalization |
n/a not assessed