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Diagnosis statistics over the years

 
Year Q1 Q2 Q3 Q4 Total
97 44 54 62 63 223
 
Congenital Adrenal hyperplasia 5 3 4 5 17
Congenital Hypothyroidism 15 8 17 12 52
Citrullinemia   3     3
Fabry disease 3 22 15 20 60
Glutaric aciduria type 1 1 1   1 3
Methylmalonic Acid 1 1 1 2 5
Maple Syrup Urine Disease 1   2   3
Pompe disease 6 8 18 15 47
Galactosemia 1 2 2 1 6
Phenylketonuria 6 3 2 4 15
Homocystinuria 3 3 1 3 10
Isovaleric acidemia 2       2
 
 
Year Q1 Q2 Q3 Q4 Total
98 64 67 75 69 275
 
Congenital Adrenal hyperplasia 7 2 1   10
Carnitine Transporter Defect       1 1
Congenital Hypothyroidism 13 9 13 14 49
Citrullinemia 1 1 1   3
Fabry disease 14 13 21 12 60
Glutaric aciduria type 1     1   1
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency   1   2 3
Methylmalonic Acid       2 2
Maple Syrup Urine Disease 1 1     2
Pompe disease 21 34 24 27 106
Galactosemia 1 2 1   4
Phenylketonuria 3 3 5 7 18
Homocystinuria 3 1 8 4 16
 
 
Year Q1 Q2 Q3 Q4 Total
99 60 55 45 53 213
 
Congenital Adrenal hyperplasia 2   1 5 8
Carnitine Transporter Defect 1 1 1 2 5
Congenital Hypothyroidism 13 7 14 18 52
Citrullinemia   1     1
Fabry disease 16 20 10 16 62
Glutaric aciduria type 1 1       1
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency   1     1
Methylmalonic Acid 2   1   3
Pompe disease 23 20 13 7 63
Propionic Acidemia     1   1
Galactosemia 1 1 1 1 4
Phenylketonuria   2 2 4 8
Homocystinuria 1 1 1   3
Isovaleric acidemia   1     1
 
 
Year Q1 Q2 Q3 Q4 Total
100 50 52 74 105 281
 
Congenital Adrenal hyperplasia   4 4 5 13
Carnitine Palmitoyl Transferase Deficiency Type I   1     1
Carnitine Transporter Defect 1 4 3 2 10
Congenital Hypothyroidism 18 13 9 13 53
Citrullinemia     2   2
Fabry disease 13 12 19 36 80
Glutaric aciduria type 1   1     1
Methylmalonic Acid     1 1 2
Pompe disease 14 14 29 43 100
Galactosemia   1 1   2
Phenylketonuria 3   5 5 13
Homocystinuria 1 2 1   4
 
 
Year Q1 Q2 Q3 Q4 Total
101 76 77 115 94 362
 
Congenital Adrenal hyperplasia 3 1 3 3 10
Carnitine Palmitoyl Transferase Deficiency Type I   1     1
Carnitine Transporter Defect 2 2 3   7
Congenital Hypothyroidism 18 23 27 23 91
Citrullinemia 1   1 4 6
Fabry disease 18 21 19 14 72
Glutaric aciduria type 1 1   1   2
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency 1 1     2
Methylmalonic Acid 1     1 2
Pompe disease 24 25 51 36 136
Galactosemia   1 2   3
Phenylketonuria 7 1 7 10 25
Homocystinuria   1 1 3 5
 
 
Year Q1 Q2 Q3 Q4 Total
102 87 81 119 110 397
 
Congenital Adrenal hyperplasia 3   3 1 7
Carnitine Palmitoyl Transferase Deficiency Type I   1     1
Carnitine Transporter Defect     1 2 3
Congenital Hypothyroidism 23 21 12 24 80
Citrullinemia 1 2 2 2 7
Fabry disease 23 27 54 32 136
Glutaric aciduria type II   1     1
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency 1       1
Methylmalonic Acid   1 1 2 4
Pompe disease 32 20 39 43 134
Severe combined immunodeficiency   1     1
Very long chain acyl-CoA dehydrogenase deficiency       1 1
Galactosemia     1   1
Phenylketonuria 2 5 5 2 14
Homocystinuria 1 1 1 1 4
Isovaleric acidemia 1 1     2
 
 
Year Q1 Q2 Q3 Q4 Total
103 73 59 60 96 288
 
Congenital Adrenal hyperplasia 2     1 3
Carnitine Transporter Defect 1 1     2
Congenital Hypothyroidism 18 22 17 16 73
Citrullinemia   1 1   2
Fabry disease 25 15 15 24 79
Methylmalonic Acid     1   1
Pompe disease 25 18 20 49 112
Galactosemia   1 1   2
Phenylketonuria 1   3 6 10
Homocystinuria   1 2   3
Isovaleric acidemia 1       1
 
 
Year Q1 Q2 Q3 Q4 Total
104 68 72 87 84 311
 
Congenital Adrenal hyperplasia     1   1
Carnitine Palmitoyl Transferase Deficiency Type I       1 1
Carnitine Transporter Defect     3 1 4
Congenital Hypothyroidism 22 19 22 28 91
Citrullinemia 3 2 3 4 12
Fabry disease 22 21 32 23 98
Glutaric aciduria type 1 1 1     2
Gaucher disease   1     1
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency   1     1
Methylmalonic Acid     2   2
Pompe disease 15 22 19 21 77
Phenylketonuria 4 4 5 4 17
Homocystinuria 1     1 2
Isovaleric acidemia   1   1 2
 
 
Year Q1 Q2 Q3 Q4 Total
105 84 100 82 83 349
 
Congenital Adrenal hyperplasia   1 3   4
Carnitine Transporter Defect 1       1
Congenital Hypothyroidism 30 37 22 33 122
Citrullinemia     3 1 4
Fabry disease 27 23 23 23 96
Glutaric aciduria type 1 2 1 1 2 6
Gaucher disease     1   1
Glutaric aciduria type II   2   3 5
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency   1   1 2
Methylmalonic Acid 1     1 2
Maple Syrup Urine Disease     1   1
Pompe disease 16 30 24 13 83
Severe combined immunodeficiency 1   1   2
Galactosemia 2       2
Phenylketonuria 3 2   4 9
Homocystinuria 1 3 2 2 8
Isovaleric acidemia     1   1
 
 
Year Q1 Q2 Q3 Q4 Total
106 71 75 74 73 293
 
Congenital Adrenal hyperplasia   1 5 4 10
Carnitine Palmitoyl Transferase Deficiency Type I   1     1
Carnitine Transporter Defect 1 2 1 1 5
Congenital Hypothyroidism 31 24 28 29 112
Citrullinemia 3 3 1 1 8
Fabry disease 15 12 18 15 60
Glutaric aciduria type II   2 1   3
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency   1 1 1 3
Methylmalonic Acid     1   1
Pompe disease 14 17 9 14 54
Severe combined immunodeficiency       1 1
Spinal Muscular Atrophy     1 1 2
Galactosemia   2     2
Phenylketonuria 4 7 4 4 19
Homocystinuria 3 1 2 2 8
Isovaleric acidemia   2 2   4
 
 
Year Q1 Q2 Q3 Q4 Total
107 51 74 60 74 259
 
Adrenoleukodystrophy     1   1
Congenital Adrenal hyperplasia 3 1 1 3 8
Carnitine Palmitoyl Transferase Deficiency Type I     1 1 2
Carnitine Transporter Defect     3 2 5
Congenital Hypothyroidism 14 26 19 22 81
Citrullinemia 2   5 5 12
Fabry disease 15 16 10 6 47
Glutaric aciduria type 1   1   1 2
Methylmalonic Acid       2 2
Pompe disease 9 18 12 21 60
Severe combined immunodeficiency 2   1 1 4
Spinal Muscular Atrophy 1 4 1   6
Propionic Acidemia       1 1
Galactosemia   2   1 3
Phenylketonuria 2 2 3 3 10
Homocystinuria 3 3 1 4 11
Isovaleric acidemia   1 2 1 4
 
 
Year Q1 Q2 Q3 Q4 Total
108 51 65 75 85 276
 
Adrenoleukodystrophy 1 8 5 5 19
Congenital Adrenal hyperplasia 2   2 1 5
Carnitine Palmitoyl Transferase Deficiency Type I 2       2
Carnitine Transporter Defect 1 2 5 6 14
Congenital Hypothyroidism 22 27 30 23 102
Citrullinemia 3 1 1 4 9
Fabry disease 5 4 5 13 27
Glutaric aciduria type 1     2 1 3
Gaucher disease   2     2
Glutaric aciduria type II 1 1     2
Methylmalonic Acid       1 1
Pompe disease 7 11 16 23 57
Severe combined immunodeficiency   3     3
Spinal Muscular Atrophy   1     1
Very long chain acyl-CoA dehydrogenase deficiency   1     1
Galactosemia 2     1 3
Phenylketonuria 3 4 5 2 14
Homocystinuria 2   2 5 9
Isovaleric acidemia     2   2
 
 
Year Q1 Q2 Q3 Q4 Total
109 74 73 72 59 278
 
Adrenoleukodystrophy 2       2
Carnitine Transporter Defect 1 2 3 1 7
Congenital Hypothyroidism 22 20 23 14 79
Citrullinemia 13 5 9 8 35
Fabry disease 2 8 10 7 27
Glutaric aciduria type II 1   1   2
Methylmalonic Acid 3 1 2 1 7
Mucopolysaccharidosis     1   1
Pompe disease 22 30 13 16 81
Severe combined immunodeficiency     1 1 2
Spinal Muscular Atrophy   2 1   3
Galactosemia 1     1 2
Phenylketonuria 6 2 6 2 16
Homocystinuria 1 3 2 6 12
Isovaleric acidemia       2 2
 
 
Year Q1 Q2 Q3 Q4 Total
110 59 54 58 80 251
 
Adrenoleukodystrophy 4 2 1 3 10
Congenital Adrenal hyperplasia     1   1
Carnitine Palmitoyl Transferase Deficiency Type I   1     1
Carnitine Palmitoyl Transferase Deficiency Type II 1     1 2
Carnitine Transporter Defect 2 1 3 1 7
Congenital Hypothyroidism 22 25 21 28 96
Citrullinemia 10 8 5 13 36
Fabry disease 5 4 7 16 32
Glutaric aciduria type 1     1   1
Glutaric aciduria type II 2       2
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency   1     1
Methylmalonic Acid 1 1 1   3
Mucopolysaccharidosis     1   1
Pompe disease 5 3 7 9 24
Severe combined immunodeficiency 1 1     2
Spinal Muscular Atrophy   1 1 3 5
Propionic Acidemia   1     1
Galactosemia   1 2 1 4
Phenylketonuria 3 1 6 1 11
Homocystinuria 2 3   2 7
Isovaleric acidemia 1   1 2 4
 
 
Year Q1 Q2 Q3 Q4 Total
111 50 39 62 54 205
 
Adrenoleukodystrophy 1   3 3 7
Congenital Adrenal hyperplasia       1 1
Carnitine Palmitoyl Transferase Deficiency Type I     1 1 2
Carnitine Palmitoyl Transferase Deficiency Type II       1 1
Carnitine Transporter Defect 1   1   2
Congenital Hypothyroidism 13 16 28 15 72
Citrullinemia 6 1 4 10 21
Duchenne Muscular Dystrophy 1     1 2
Fabry disease 8 11 13 10 42
Glutaric aciduria type 1   2 1   3
Methylmalonic Acid     1   1
Pompe disease 7 5 3 6 21
Severe combined immunodeficiency   1 1 1 3
Spinal Muscular Atrophy       2 2
Very long chain acyl-CoA dehydrogenase deficiency 1       1
Galactosemia 2 2 1 1 6
Phenylketonuria 3 1 3 1 8
Homocystinuria 7   1   8
Isovaleric acidemia     1 1 2
 
 
Year Q1 Q2 Q3 Q4 Total
112 40       40
 
Adrenoleukodystrophy 2       2
Congenital Adrenal hyperplasia 1       1
Carnitine Palmitoyl Transferase Deficiency Type I 1       1
Carnitine Transporter Defect 1       1
Congenital Hypothyroidism 14       14
Citrullinemia 5       5
Fabry disease 6       6
Glutaric aciduria type 1 1       1
Pompe disease 7       7
Homocystinuria 1       1
Isovaleric acidemia 1       1
 

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