|
Aminoacidopathy
| | | | |
|
Maple syrup urine disease (MSUD)
|
4.8
|
10.2
|
0
|
< 0.001
|
|
Non-ketotic hyperglycinemia
|
3.8
|
8
|
0
|
< 0.001
|
|
Peroxisomal diseases
| | | | |
|
X-linked Adrenoleukodystrophy
|
0.8
|
0
|
1.6
|
0.1
|
|
Zellweger disease
|
4.6
|
8.2
|
0.5
|
< 0.001
|
|
Sphingolipidosis
| | | | |
|
Niemann Pick C type 1
|
4.8
|
9.1
|
1
|
< 0.001
|
|
Organic aciduria
| | | | |
|
Glutaric aciduria type 1
|
2
|
4.3
|
0
|
0.003
|
|
Fatty acid oxidation diseases
| | | | |
|
Multiple acyl-CoA dehydrogenase deficiency
|
0.5
|
1
|
0
|
0.1
|
|
Medium chain acyl-CoA dehydrogenase deficiency
|
1
|
0.5
|
1.5
|
0.4
|
|
Very long chain acyl-CoA dehydrogenase deficiency
|
2.3
|
4.3
|
0.5
|
0.01
|
|
Carnitine palmitoyl-transferase 1A
|
0.3
|
0.5
|
0
|
0.3
|
|
Carnitine palmitoyl- transferase 2
|
0.5
|
0
|
1
|
0.2
|
|
Long chain 3-hydroxyl-CoA dehydrogenase deficiency
|
0.5
|
0.3
|
0
|
0.3
|
|
Mucopolysaccharidosis
| | | | |
|
Mucopolysaccharidosis type 1
|
1
|
1.1
|
1
|
0.9
|
|
Mucopolysaccharidosis type 3
|
2
|
3.7
|
0.5
|
0.02
|
|
Mucopolysaccharidosis type 3
|
2.8
|
5.9
|
0
|
< 0.001
|
|
Unclassified mucopolysaccharidosis
|
0.8
|
1.1
|
0.5
|
0.6
|
|
Glycogen storage diseases
| | | | |
|
Glycogen storage disease type 0
|
0.3
|
0
|
0.5
|
0.3
|
|
Glycogen storage disease type 1A
|
1.5
|
0
|
2.9
|
0.02
|
|
Glycogen Storage disease type 1B
|
4.1
|
8
|
0.5
|
< 0.001
|
|
Glycogen storage disease type IIIA
|
1.8
|
0
|
3.7
|
< 0.001
|
|
Glycogen storage disease type 6
|
2.3
|
4.8
|
0
|
< 0.001
|
|
Glycogen storage disease type 9
|
0.3
|
0.5
|
0
|
0.3
|
|
Glycogen storage disease type 11
|
0.3
|
0.5
|
0
|
0.3
|
|
Unclassified glycogen storage disease
|
0.8
|
1.1
|
0.5
|
0.6
|
|
Pompe disease (type 2 glycogen storage disease)
|
2.3
|
4.8
|
0
|
0.003
|
|
Mitochondrial diseases
| | | | |
|
Complex 1 deficiency
|
2.8
|
5.9
|
0
|
< 0.001
|
|
Complex 3 deficiency
|
3.3
|
7
|
0
|
< 0.001
|
|
Complex 5 deficiency
|
1.8
|
3.7
|
0
|
0.005
|
|
Pyruvate dehydrogenase deficiency type 1A
|
0.3
|
0
|
0.5
|
0.3
|
|
Pyruvate dehydrogenase deficiency type E3
|
0.5
|
1.1
|
0
|
0.2
|
|
Kearns Sayre syndrome
|
0.3
|
0
|
0.5
|
0.3
|
|
Mitochondrial neuro-gastrointestinal encephalopathy disease
|
0.3
|
0.5
|
0
|
0.3
|
|
Trans-membrane protein 70 (TMEM70) deficiency
|
0.5
|
1.1
|
0
|
0.2
|
|
Mitochondrial DNA depletion
|
0.5
|
1.1
|
0
|
0.2
|
|
Unspecified mitochondrial disease
|
0.3
|
0.5
|
0
|
0.3
|
