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 |
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Total confirmed cases of metabolic errors |
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No of Screened Live births |
Confirmed Cases |
Type |
No |
% |
37168 |
426 |
3-methylcrotonyl-CoA carboxylase (3 –MCC) |
13 |
20.63 |
Biotinidaze deficiency |
12 |
19.05 |
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Medium Chain acyl Coenzyme A Dehydrogenase (MCAD) |
5 |
7.94 |
||
Glutaric Aciduria |
1 |
1.59 |
||
Glutaric Academia type 2 |
4 |
6.35 |
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Probionic Acidemia |
1 |
1.59 |
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Homocysteinuria |
2 |
3.17 |
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Primary Carnitin deficiency |
1 |
1.59 |
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Nonketotic hyperglycinaemia (NKH) |
2 |
3.17 |
||
Galactosemia |
2 |
3.17 |
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Phenyl Ketonuria (PKU) |
1 |
1.59 |
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Methylmalonic acidaemia (MMA) |
2 |
3.17 |
||
Multiple corboxylase deficiency |
1 |
1.59 |
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Citrulinemia |
1 |
1.59 |
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Hypothyroidism |
12 |
19.05 |
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Congenital adrenal hyperplasia (CAH) |
3 |
4.76 |
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37168 |
63 (0.17%) |
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