Table 6.
Infants with IEM who presented to the metabolic service before the newborn screening results (n = 9) or had no testing at birth (n = 5) in 2011–2014
| Disease | Comments |
|---|---|
| Tyrosinemia | Newborn screening was not done. Infant presented at 6 months of age with liver disease. Parents refused early therapy; nitisinone and tyrosine-free diet were started at 1 year of age |
| Maple syrup urine disease | Newborn screening was not done. Infant presented at 11 days of age with poor feeding. Diagnosis was made at 3 weeks of age and he died shortly thereafter |
| Maple syrup urine disease | Family refused newborn screening. Diagnosis was made at 10 days of age. Patient received liver transplantation |
| Citrullinemia type I | Hyperammonemia (1,985 mmol/L) was detected on the first day of age. Dialysis was started on the second day of age. Good clinical outcome |
| Citrullinemia type I | Infant presented on the third day of age and died on the seventh day |
| Arginosuccinic aciduria | Infant presented on the third day of age with sepsis-like illness. Diagnosis was made in the third week of age. Poor clinical outcome |
| Propionic aciduria | Newborn screening was not done. Patient died at 2 years of age |
| Propionic aciduria | Patient had positive family history. Diagnosis was made clinically at 10 days of age |
| Propionic aciduria | Patient presented at 2 day of age with irritability and died at 15 days of age |
| Methylmalonic aciduria | Patient presented on the fourth day of age with hypoglycemia and thrombocytopenia. Good clinical outcome |
| Methylmalonic aciduria | Patient presented on the third day of age with hyperammonemia. Good clinical outcome |
| Isovaleric aciduria | Diagnosis was made at birth based on positive family history. Good clinical outcome |
| Glutaric aciduria type 2 | Patient presented on the second day of age and died on the seventh day of life before the newborn screening result |
| Biotinidase | Newborn screening was not done. Patient presented with seizure |
Five neonates missed the newborn screening; one family declined the test and four families did not show up for the appointment