Table 1 Small-molecule disorders of IEMs in KAMC (2001–2014). Total numbers of live births (110,601)

Organic acidemias

34

30

1.8 years

60 days

1 day–10 years

Propionic acidemia

9

30.2 days

20 days

1 day–6 months

Methylmalonic acidemia

7

Mutase deficiency

5

Cobalamin A defect

1

Cobalamin C defect

1

Glutaric acidemia

3

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

4

3-Methylcrotonylco A carboxylase deficiency

3

Biotinidase deficiency

3

3-Methylglutaconic Aciduria Type III

1

Ethylmalonic encephalopathy

1

B-ketothiolase deficiency

1

Isovaleric acidemia

1

Malonic aciduria

1

Aminoacidopathies

30

27

3.3 years

10.5 months

1 day–13 years

Homocystinuria

14

7 years

7.5 years

 • Classical

11

 • MTHFR deficiency

2

 • MAT deficiency

1

PKU

5

 • Classical

3

 • Non-PKU hyperphenylalaninemia

2

Biopterin Synthesis Defect PTPS deficiency

4

MSUD

5

Asparagine synthetase deficiency

2

Vitamins responsive disorders

18

16

5.7 years

5.5 years

6 months–10 years

Biotin Thiamine Responsive Basal Ganglia Disease

17

Pyridoxine-dependent epilepsy

1

Inborn Errors of Carbohydrates

12

11

3.1 years

1.3 years

1 week–7 years

Galactosemia

4

Transaldolase deficiency

6

Hereditary fructose intolerance

1

Fructose 1,6 bisphosphatase deficiency

1

Urea Cycle Disorders

12

11

12 days

7 days

1 day–30 days

Argininosuccinic Aciduria

8

Citrullinemia

4

Fatty Acid Oxidation Defects

5

4

1.4 years

2 days

2 days–7 years

VLCAD deficiency

3

21 days

2 days

2 days–60 days

MCAD deficiency

1

2 days

2 days

2 days

Carnitine uptake defect

1

7 years

7 years

7 years

Aminoacids transport defect

5

4

10 years

11 years

6–13 years

Cystinuria

5

Metal transport defect

2

2

8.5 years

8.5 years

7–10 years

Wilson disease

2

Disorders of Haem biosynthesis

2

2

12.5 years

12.5 years

12–13 years

Acute intermittent porphyria

2

Cholesterol biosynthesis defect

1

1

1 year

1 year

1 year

CHILD syndrome

1

Total

121

109

3.3 years

9 months

1 day–13 years