Table 7 The different disease types of the studied cases after routine and specific laboratory finding
Variable | n = 200 |
|---|---|
IEM | 70 (35%) |
 1. Urea cycle defect (UCD) | 20 (28.5%) |
 2. Maple syrup urine disease (MSUD) | 18 (25.7%) |
 3. Fatty acid oxidation defect (FAOD) | 15 (21.4%) |
 4. Organic acidemia (OA) | 15(21.4%) |
 5. Hyperglycinemia (HGN) | 1 (1.4 %) |
 6. Di-hydro-pyrimidine dehydrogenase deficiency (DHPD) | 1 (1.4 %) |
Suspected IEM (unconfirmed) | 8 (4%) |
 1. Suspected tyrosinemia (ST) | 4 (2%) |
 2. Suspected galactosemia (SG) | 3 (1.5%) |
 3. Suspected multiple carboxylase deficiency | 1 (0.5%) |
Transient hyperphenylalaninemia (THPN) | 15 (7.5) |
Diagnosis rather than IEM | 63 (31.5%) |
 1. Neonatal sepsis (NS) | 26 (13%) |
 2. Hypoxic ischemic encephalopathy (HIE) | 10 (5%) |
 3. Necrotizing entercolitis (NEC) | 9 (4.5%) |
 4. Hyperinsulinemia (HI) | 6 (3%) |
 5. Hypoparathyroidism (HPT) | 4 (2%) |
 6. Congenital adrenal hyperplasia (CAH) | 4 (2%) |
 7. Intestinal obstruction (IO) | 4 (2%) |
Undiagnosed | 44 (22%) |