Table 2 Large-molecule disorders of IEMs in KAMC (2001–2014). Total numbers of live births (110,601)

Lysosomal Storage Diseases (LSD)

41

37

3.6 year

3 years

2 months–13 years

Sphingolipidosis

22

20

3.1 years

2 years

2 months–13 years

Fabry disease

3

Sandhoff disease

2

Niemann–Pick disease type B

1

Niemann–Pick disease type C

3

GM1 gangliosidosis (infantile phenotype)

4

Metachromatic leukodystrophy

3

Saposin B Deficiency

2

Krabbe disease

1

Mucopolysaccharidosis (MPS)

15

14

5 years

5 years

5 months–12 years

MPS I

1

MPS II

1

MPS IIIA

2

MPS IVA

5

MPS VI

6

Oligosaccharidosis

2

2

3 years

3 years

2–4 years

Mucolipidosis II

1

α-mannosidosis

1

Others

Neuronal ceroid-lipofuscinoses

3: 2 type 6, and 1 type 8

5.3

5

5–6 years

GSD II

2

3.1 months

3.1 months

1 week to 6 months

Glycogen storage diseases (GSD)

5

4

2.2 years

2 years

15 months–4 years

GSD III

1

GSD IV

1

GSD IX

3

Mitochondrial disorders

12

11

2.2 years

8 months

1 week–8 years

Leigh disease

3

Pyruvate dehydrogenase deficiency

2

Pyruvate carboxylase deficiency

2

Mitochondrial DNA depletion syndrome 3

1

Mitochondrial DNA depletion syndrome 5

1

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

1

3-Methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like

1

Primary Coenzyme Q10 deficiency type 5

1

Peroxisomal disorders

7

6

2 years

9 months

1 week–8 years

Primary hyperoxaluria type 1

5

Zellweger syndrome

1

Rhizomelic Chondrodysplasia Punctata

1

Congenital disorders of glycosylation (CDG)

1 (CDG 1 L)

1

8 years

8 years

8 years

Total

66

60

3.1 years

2 years

1 week–13 years