Patients | 1 | 2 | 3 | 4 |
---|---|---|---|---|
Gender | F | M | M | F |
Age of diagnosis | 3 y | 86 d | 5 y | 8 m |
Cesarean delivery | Y | Y | N | N |
Family history | N | N | N | N |
Consanguineous | N | N | Y | N |
Convulsions | Y | Y | N | N |
Developmental delay | Y | Y | Y | Y |
Hypotonia | N | N | N | Y |
Hyporeflexia | N | N | N | Y |
Sleep disturbances | N | Y | N | Y |
Abnormal EEG | Y | Y | UN | N |
Abnormal MRI | Y | Y | UN | Y |
Metabolic acidosis | N | Y | N | N |
4-HB urine | Y | Y | Y | Y |