Table 2. Common features of patients with organic acidurias detected in high-risk Brazilians.
Age at diagnosis | Percentage |
---|---|
< 1 month | 5 |
1 - 12 months | 44 |
1 - 3 years | 20 |
3 - 10 years | 17 |
> 10 years | 14 |
Gender | Percentage |
Female | 47 |
Male | 53 |
Clinical features | Percentage |
Neurological | 66 |
Vomiting | 17 |
Feeding difficulties | 15 |
Failure to thrive | 6 |
Hepatomegaly | 5 |
Dysmorphies | 4 |
Neurological signs | Percentage |
Psychomotor delay/mental retardation | 30 |
Seizures | 25 |
Hypotonia/hypertonia/dystonia | 23 |
Macrocephaly | 10 |
Laboratory findings | Percentage |
Metabolic acidosis | 32 |
Hypoglycemia | 14 |