Table 1. Common features of patients with aminoacidopathies detected in high-risk Brazilians.
| Age at diagnosis | Percentage |
|---|---|
| < 1 month | 12 |
| 1 - 12 months | 52 |
| 1 - 3 years | 11 |
| 3 - 10 years | 14 |
| > 10 years | 11 |
| Gender | Percentage |
| Female | 45 |
| Male | 55 |
| Clinical features | Percentage |
| Neurological abnormalities | 90 |
| Feeding difficulties | 30 |
| Hepatomegaly | 22 |
| Vomiting | 15 |
| Dysmorphies | 7 |
| Failure to thrive | 3 |
| Neurological signs | Percentage |
| Psychomotor delay/mental retardation | 61 |
| Seizures | 60 |
| Hypotonia/hypertonia/dystonia | 36 |
| Cerebral atrophy | 27 |
| Macrocephaly | 8 |
| Laboratory findings | Percentage |
| Metabolic acidosis | 41 |
| Hypoglycemia | 41 |
| Lactic acidemia | 14 |