Table I.

Part of the Slovenian Register of Rare Disorders.

	Amino acid and protein metabolism	No. of patients
1	Phenylketonuria	140
2	BH4 metabolism – PTPS deficiency	2
3	Propionic acidemia	2
4	Methylmalonic acidemia	1
5	Glutaric aciduria type I	2
6	Glycerol kinase deficiency	1
7	Nonketotic hyperglycinemia	3
8	Urea cycle disorder – OTC deficiency	7
9	Homocystinuria	7
10	Canavan disease	1
11	Alkaptonuria	1
12	Barth syndrome	1
	Lysosomal diseases
13	Fabry disease	5 (+37 adults)
14	Gaucher disease type I	2 (+18 adults)
	Fatty acids metabolism
15	LCHAD deficiency	3
16	SCAD deficiency	1
17	GA II	1
	Congenital disorders of glycosylation
18	CDG type II	1