Table 2: Number and percentage of inborn errors of metabolism in a population of children born with inborn errors of metabolism from 2006 to 2009 in the neonatology section, Maternity Hospital, Al Ahsa, Eastern Region, Saudi Arabia.
| Total confirmed cases of metabolic errors | ||||
|---|---|---|---|---|
| No of Screened Live births | Confirmed Cases | Type | No | % |
| 3-methylcrotonyl-CoA carboxylase (3– MCC) | 13 | 20.63 | ||
| Biotinidaze deficiency | 12 | 19.05 | ||
| Medium Chain acyl Coenzyme A Dehydrogenase (MCAD) | 5 | 7.94 | ||
| Glutaric Aciduria | 1 | 1.59 | ||
| Glutaric Academia type 2 | 4 | 6.35 | ||
| Probionic Acidemia | 1 | 1.59 | ||
| Homocysteinuria | 2 | 3.17 | ||
| Primary Carnitin deficiency | 1 | 1.59 | ||
| 37168 | 63 (0.17%) | |||
| Nonketotic hyperglycinaemia (NKH) | 2 | 3.17 | ||
| Galactosemia | 2 | 3.17 | ||
| Phenyl Ketonuria (PKU) | 1 | 1.59 | ||
| Methylmalonic acidaemia (MMA) | 2 | 3.17 | ||
| Multiple corboxylase deficiency | 1 | 1.59 | ||
| Citrulinemia | 1 | 1.59 | ||
| Hypothyroidism | 12 | 19.05 | ||
| Congenital adrenal hyperplasia (CAH) | 3 | 4.76 |