1 | glutaric aciduria type ll | 1 |
2 | 3-Hydroxy-3-methylglutarylCoA lyase deficiency | 0 |
3 | 3-HydroxyacylCoA dehydrogenase(Short-chain 3- HydroxyacylCoA dehydrogenase) Deficiency | 1 |
4 | 3-Methylglutaconic aciduria (MGA) | 1 |
5 | 3methylcrotonyl glycinuria | 1 |
6 | 4Hydroxybutyric aciduria | 0 |
7 | Adrenoleukodystrophy | 8 |
8 | Alexander Disease | 0 |
9 | Alfa-Mannosidosis | 0 |
10 | Alkaptonuria | 0 |
11 | Argininemia | 0 |
12 | Argininosuccinic aciduria | 0 |
13 | Aromatic L-Amino acid Decarboxylase Deficiency (AADC) | 1 |
14 | Ataxia with Oculomotor Apraxia Type 1 (AOA1) | 3 |
15 | Biotinidase deficiency | 18 |
16 | Branched Chain Ketoacid dehydrogenase kinas deficiency(BCKDK) | 2 |
17 | Canavan | 5 |
18 | Carbamylphosphate synthetase deficiency | 0 |
19 | Carnitine -acylcarnitine translocase deficiency | 0 |
20 | Carnitine palmitoyl transferase l deficiency | 0 |
21 | Carnitine palmitoyl transferase ll deficiency,late onset | 0 |
22 | Carnitine palmitoyl transferase ll deficiency,lethal neonatal | 0 |
23 | Carnitine transporter deficiency | 0 |
24 | Citrullinemia | 1 |
25 | CoblC- CoblG- CoblF | 0 |
26 | Cockayne syndrome | 0 |
27 | Combined oxidation phosphorylation deficiency 6 (cow check syndrome) | 1 |
28 | Congenital Disorder of glycosilation | 0 |
29 | Creatine Deficiency | 0 |
30 | Cystinosis | 0 |
31 | Cystinuria | 0 |
32 | D-2-Hydroxyglutaric aciduria | 4 |
33 | Deficiency of the pyruvate dehydrogenase complex | 0 |
34 | Dihydropyrimidine dehydrogenase deficiency | 1 |
35 | ethylmalonic - adipic aciduria | 0 |
36 | Ethylmalonic encephalopathy (EE) | 1 |
37 | Fabry disease | 0 |
38 | Familial hypercholesterolemia | 0 |
39 | Fructose-1,6-biphosphatase deficiency | 1 |
40 | Fucosidosis | 0 |
41 | Galactosemia | 0 |
42 | Galactosialidosis | 0 |
43 | Gaucher disease | 0 |
44 | glucose transporter1 deficiency | 0 |
45 | Glutamine synthetase deficiency | 0 |
46 | Glutaric aciduria type l | 16 |
47 | Glutaric aciduria type ll | 0 |
48 | Glycogen storage diseases | 0 |
49 | Glycogenosis type 1- Von Gierke disease | 0 |
50 | Glycogenosis type 2 /Pompe | 2 |
51 | Glycogenosis type 3 | 0 |
52 | Glycogenosis type 3 / amylo-1 | 0 |
53 | Glycogenosis type 4 | 0 |
54 | Glycogenosis type 5 | 0 |
55 | Glycogenosis type 6 | 0 |
56 | Glycogenosis type 7 | 0 |
57 | GM1 gangliosidosis (Juvenile) | 1 |
58 | GM1 gangliosidosis type I (Infantile) | 1 |
59 | GM1 gangliosidosis type II | 0 |
60 | GM2 activator deficiency | 2 |
61 | GM2 gangliosidosis(Sandhoff disease) | 0 |
62 | GM2 gangliosidosis(Tay-sachs disease) | 1 |
63 | Hartnup disease | 0 |
64 | hepatorenal tyrosinemia | 0 |
65 | HIBCH deficiency | 1 |
66 | holocarboxylase synthetase deficiency | 0 |
67 | Homocystinuria | 1 |
68 | Hunter disease | 1 |
69 | Hurler disease | 0 |
70 | Hyperornithinemia | 0 |
71 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) | 1 |
72 | Hyperphenylalaninemia | 0 |
73 | isovaleric acidemia | 4 |
74 | Keans-Sayre syndrome | 0 |
75 | Krabbe disease | 3 |
76 | L-2 Hydroxyglutaric aciduria | 4 |
77 | l-cell disease/mucolipidosis ll | 0 |
78 | Leigh syndrome | 5 |
79 | Lesch-Nyhan disease and variants | 0 |
80 | Long chain L-3-hydroxyacyl CoA dehydrogenase-(trifunctional protein deficiency) | 0 |
81 | Lysinuric protein intolerance | 0 |
82 | Maple syrup urine disease(MSUD) | 2 |
83 | Maroteaux-Lamy disease/mucopolysaccharidosis Vl | 0 |
84 | Medium chain acyl CoA dehydrogenase deficiency(MCAD) | 1 |
85 | Menkes disease | 1 |
86 | Metachromatic leukodystrophy(MLD) | 4 |
87 | Methylmalonic acidemia | 22 |
88 | methylmalonic aciduria and homocystinuria | 13 |
89 | Mevalonic aciduria | 0 |
90 | Mitochondrial acetoacetyl-CoA thiolase(3-oxothiolase)deficiency | 0 |
91 | Mitochondrial cytochrome c oxidase (COX) deficiency | 2 |
92 | Mitochondrial dysfunction | 3 |
93 | Mitochondrial encephalomyelopathy,lactic acidosis,and stroke-like episodes(MELAS) | 0 |
94 | Molybdenum cofactor Deficiency | 1 |
95 | Morquio syndrome/mucopolysaccharidosis type lV | 0 |
96 | Mucolipidosis | 0 |
97 | Mucolipidosis lll | 0 |
98 | Multiple acyl CoA dehydrogenase deficiency/ Glutaric aciduria type II/ ethylmalonic-adipic aciduria | 0 |
99 | Multiple carboxylase deficiency /holocarboxylase synthetase deficiency | 0 |
100 | Multiple sulfatase deficiency | 0 |
101 | Myoclonic epilepsy and ragged red fiber(MERRF)disease | 0 |
102 | Neonatal adrenoleukodystrophy | 0 |
103 | Neonatal Ceroid Lipofuscinosis(NCL) | 4 |
104 | Neurodegeneration.ataxia,and retinitis pigmentosa(NARP) | 0 |
105 | Neurodegeneration.ataxia,and retinitis pigmentosa(NARP) | 0 |
106 | Neurodegenerative disorder | 1 |
107 | Neuropathy,Russse type | 1 |
108 | Niemann-pick A/B disease | 1 |
109 | Niemann-pick type C disease | 8 |
110 | Nonketotic hyperglycinemia | 0 |
111 | NOTCH3(Cerebral artropathy with subcortical infarcts and leukoencephalopathy1) | 0 |
112 | oculocutaneous tyrosinemia | 0 |
113 | Ornithine transcarbamylase deficiency | 0 |
114 | Orotic aciduria | 0 |
115 | oxothiolase deficiency | 1 |
116 | Pearson syndrome | 0 |
117 | phenylketonuria | 5 |
118 | Propionic acidemia | 3 |
119 | Pyruvate carboxylase deficiency | 0 |
120 | Pyruvate Dehydrogenase deficiency | 1 |
121 | Sandhoff disease | 6 |
122 | Scheie and Hurler-Scheie diseases | 0 |
123 | Short-chain acyl CoA dehydrogenase deficiency | 0 |
124 | Sly disease | 0 |
125 | Succinate Dehydrogenase Deficiency | 3 |
126 | Tay-sachs disease | 3 |
127 | The mitochondrial DNA depletion syndromes | 0 |
128 | Thiamine Deficiency | 0 |
129 | Thiamine Responsive Megaloblastic Anemia(TRMA Anemia) | 1 |
130 | Tyrosinemia | 2 |
131 | Very long chain acyl CoA dehydrogenase deficiency | 0 |
132 | Wolman disease | 0 |
133 | Zellweger | 6 |