Table 2.

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

Disease category	Number of cases diagnosed	Incidence per 100,000	Mean age at diagnosis	Median age at diagnosis	Range of age
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