Table 1 Overview of diagnoses of children with metabolic diseases (n = 29)

• Canavan disease

1

• Krabbe disease

1

• Other

2

• Metachromatic leukodystrophy

3

• GM2 Gangliosidosis (Tay-Sachs disease)

1

 Alexander disease

2

 Mucopolysaccharidoses

2

Neuronal ceroid lipofuscinosis

2

• Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

^*1

• Hyperglycinemia, nonketotic

2

• Pearson syndrome

^*2

• Leigh syndrome

^*2

• EARS2 mutation

^*1

• TMEM70 mutation

^*1

• etiology unknown

^*4

• Sulfite oxidase deficiency

^*1

• Molybdenum cofactor deficiency

^*1