1 | glutaric aciduria type ll | 2 |
2 | 3-Hydroxy-3-methylglutarylCoA lyase deficiency | 0 |
3 | 3-HydroxyacylCoA dehydrogenase(Short-chain 3- HydroxyacylCoA dehydrogenase) Deficiency | 2 |
4 | 3-Methylglutaconic aciduria (MGA) | 2 |
5 | 3methylcrotonyl glycinuria | 1 |
6 | 4Hydroxybutyric aciduria | 0 |
7 | ?- Pyrroline-5-Carboxylase Reductase deficiency | 1 |
8 | Adenylosuccinate lyase deficiency(ADSL) | 1 |
9 | Adrenoleukodystrophy | 17 |
10 | Alexander Disease | 1 |
11 | Alfa-Mannosidosis | 0 |
12 | Alkaptonuria | 0 |
13 | Argininemia | 0 |
14 | Argininosuccinic aciduria | 0 |
15 | Aromatic L-Amino acid Decarboxylase Deficiency (AADC) | 1 |
16 | Ataxia with Oculomotor Apraxia Type 1 (AOA1) | 5 |
17 | Biotin-Thiamine- Responsive B6 Disease | 2 |
18 | Biotinidase deficiency | 21 |
19 | Branched Chain Ketoacid dehydrogenase kinas deficiency(BCKDK) | 3 |
20 | Canavan | 8 |
21 | Carbamylphosphate synthetase deficiency | 0 |
22 | Carnitine -acylcarnitine translocase deficiency | 0 |
23 | Carnitine palmitoyl transferase l deficiency | 0 |
24 | Carnitine palmitoyl transferase ll deficiency,late onset | 0 |
25 | Carnitine palmitoyl transferase ll deficiency,lethal neonatal | 0 |
26 | Carnitine transporter deficiency | 1 |
27 | Citrullinemia | 1 |
28 | Cobalamin G | 0 |
29 | CoblC- CoblG- CoblF | 6 |
30 | Cockayne syndrome | 0 |
31 | Combined oxidation phosphorylation deficiency 6 (cow check syndrome) | 4 |
32 | Congenital Disorder of glycosilation | 0 |
33 | Creatine Deficiency | 1 |
34 | Cystinosis | 0 |
35 | Cystinuria | 0 |
36 | D-2-Hydroxyglutaric aciduria | 4 |
37 | Deficiency of the pyruvate dehydrogenase complex | 0 |
38 | Dihydropyrimidine dehydrogenase deficiency | 1 |
39 | ethylmalonic - adipic aciduria | 0 |
40 | Ethylmalonic encephalopathy (EE) | 2 |
41 | Fabry disease | 0 |
42 | Familial hypercholesterolemia | 0 |
43 | Fructose-1,6-biphosphatase deficiency | 2 |
44 | Fucosidosis | 0 |
45 | Galactosemia | 0 |
46 | Galactosialidosis | 0 |
47 | Gaucher disease | 0 |
48 | glucose transporter1 deficiency | 2 |
49 | Glutamine synthetase deficiency | 0 |
50 | Glutaric aciduria type l | 20 |
51 | Glutaric aciduria type ll | 1 |
52 | Glycogen storage diseases | 0 |
53 | Glycogenosis type 1- Von Gierke disease | 0 |
54 | Glycogenosis type 2 /Pompe | 2 |
55 | Glycogenosis type 3 | 0 |
56 | Glycogenosis type 3 / amylo-1 | 0 |
57 | Glycogenosis type 4 | 0 |
58 | Glycogenosis type 5 | 0 |
59 | Glycogenosis type 6 | 0 |
60 | Glycogenosis type 7 | 0 |
61 | GM1 gangliosidosis (Juvenile) | 2 |
62 | GM1 gangliosidosis type I (Infantile-Late) | 4 |
63 | GM1 gangliosidosis type II | 0 |
64 | GM2 activator deficiency | 2 |
65 | GM2 gangliosidosis(Sandhoff disease) | 1 |
66 | GM2 gangliosidosis(Tay-sachs disease) | 3 |
67 | Hartnup disease | 0 |
68 | hepatorenal tyrosinemia | 0 |
69 | HIBCH deficiency | 1 |
70 | holocarboxylase synthetase deficiency | 0 |
71 | homocisteine transferase deficiency | 0 |
72 | Homocystinuria | 4 |
73 | Hunter disease | 1 |
74 | Hurler disease | 0 |
75 | Hyperornithinemia | 1 |
76 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) | 1 |
77 | Hyperphenylalaninemia | 0 |
78 | Hypoglycemia occipital-lobe-epilepsy syndrome | 1 |
79 | isovaleric acidemia | 5 |
80 | Keans-Sayre syndrome | 0 |
81 | Krabbe disease | 4 |
82 | L-2 Hydroxyglutaric aciduria | 5 |
83 | l-cell disease/mucolipidosis ll | 0 |
84 | Leigh syndrome | 5 |
85 | Lesch-Nyhan disease and variants | 0 |
86 | Leukodystrophy | 0 |
87 | Long chain L-3-hydroxyacyl CoA dehydrogenase-(trifunctional protein deficiency) | 0 |
88 | Lysinuric protein intolerance | 0 |
89 | Maple syrup urine disease(MSUD) | 2 |
90 | Maroteaux-Lamy disease/mucopolysaccharidosis Vl | 0 |
91 | Medium chain acyl CoA dehydrogenase deficiency(MCAD) | 3 |
92 | Menkes disease | 1 |
93 | Metachromatic leukodystrophy(MLD) | 7 |
94 | Methylmalonic acidemia | 22 |
95 | methylmalonic aciduria and homocystinuria(Cobalamin C Deficiency) | 15 |
96 | methylmalonic aciduria and homocystinuria(Cobalamin E Deficiency) | 0 |
97 | methylmalonic aciduria and homocystinuria(Cobalamin G Deficiency) | 1 |
98 | Mevalonic aciduria | 0 |
99 | Mitochondrial acetoacetyl-CoA thiolase(3-oxothiolase)deficiency | 0 |
100 | Mitochondrial cytochrome c oxidase (COX) deficiency | 2 |
101 | Mitochondrial dysfunction | 17 |
102 | Mitochondrial encephalomyelopathy,lactic acidosis,and stroke-like episodes(MELAS) | 2 |
103 | Molybdenum cofactor Deficiency | 2 |
104 | Morquio syndrome/mucopolysaccharidosis type lV | 1 |
105 | Mucolipidosis | 0 |
106 | Mucolipidosis lll | 0 |
107 | Multiple acyl CoA dehydrogenase deficiency/ Glutaric aciduria type II/ ethylmalonic-adipic aciduria | 1 |
108 | Multiple carboxylase deficiency /holocarboxylase synthetase deficiency | 0 |
109 | Multiple sulfatase deficiency | 1 |
110 | Myoclonic epilepsy and ragged red fiber(MERRF)disease | 0 |
111 | Neonatal adrenoleukodystrophy | 0 |
112 | Neonatal Ceroid Lipofuscinosis(NCL) | 7 |
113 | Neurodegeneration with Brain Iron Accumulation(NBIA) | 1 |
114 | Neurodegeneration.ataxia,and retinitis pigmentosa(NARP) | 0 |
115 | Neurodegeneration.ataxia,and retinitis pigmentosa(NARP) | 0 |
116 | Neurodegenerative disorder | 2 |
117 | Neuropathy,Russse type | 1 |
118 | Neurotransmitter Disorder | 2 |
119 | Niemann-pick A/B disease | 1 |
120 | Niemann-pick type C disease | 19 |
121 | Nonketotic hyperglycinemia | 0 |
122 | NOTCH3(Cerebral artropathy with subcortical infarcts and leukoencephalopathy1) | 0 |
123 | oculocutaneous tyrosinemia | 0 |
124 | Ornithine transcarbamylase deficiency | 1 |
125 | Orotic aciduria | 1 |
126 | oxothiolase deficiency | 1 |
127 | Pearson syndrome | 0 |
128 | phenylketonuria | 6 |
129 | Propionic acidemia | 3 |
130 | Pyruvate carboxylase deficiency | 0 |
131 | Pyruvate Dehydrogenase deficiency | 1 |
132 | Sandhoff disease | 11 |
133 | Scheie and Hurler-Scheie diseases | 0 |
134 | Short-chain acyl CoA dehydrogenase deficiency | 0 |
135 | Sly disease | 0 |
136 | Succinate Dehydrogenase Deficiency | 4 |
137 | Tay-sachs disease | 3 |
138 | The mitochondrial DNA depletion syndromes | 0 |
139 | Thiamine Dysfunction | 2 |
140 | Thiamine Responsive Megaloblastic Anemia(TRMA Anemia) | 1 |
141 | Tyrosinemia | 2 |
142 | vanishing white mather | 1 |
143 | Very long chain acyl CoA dehydrogenase deficiency | 0 |
144 | Wolman disease | 0 |
145 | Zellweger | 6 |