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

%

37168

426

3-methylcrotonyl-CoA carboxylase   (3MCC)

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

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

37168

63 (0.17%)