Table 2.
Practical criteria for detection of neurometabolic patients
| History | Consanguinity of marriage (71.4%) | History of the same disorder or death in sibling,...(23.5%) | ||
|---|---|---|---|---|
| Neurological exam | Macrocephaly (18.8%) | Microcephaly (25.4%) | Hypotonocity or hypertonocity (49.8%) | Behavioral disorder (16.9%) |
| Clinical | Visual impairment (32.9%) | Hearing impairment (6.6%) | Dysmorfic feather (13.1%) | Abnormal skin and hair (20.7%) |
| Developmental status | Delay (47.4%) | Regression (39.4%) | ||
| seizure | Current seizure (55%) | EEG abnormality (20.8) | Refractory seizures (38%) | |
| Neuroimaging | Abnormal MRI (64%) | Abnormal MRS (11.2%) | ||