TABLE 3.
Red flags for possible inborn errors of metabolism (note: The majority of these disorders are inherited in an autosomal recessive fashion)29
| History |
| Parental consanguinity |
| Autosomal recessive inheritance pattern |
| Encephalopathic crises+/− triggers (infection, surgery, medications eg, valproate) |
| Neonatal death of a sibling |
| Protein aversion/preferred vegetarianism in patient or family members |
| Unexplained post‐partum neurological symptoms (urea cycle disorder)30 |
| Episodic neurological symptoms |
| History of neonatal jaundice |
| Multi‐system involvement |
| Examination |
| Dysmorphism |
| Axial hypotonia |
| Spasticity |
| Seizures |
| Developmental delay |
| Hearing loss |
| Vision impairment |
| Stroke‐like episodes |