臺北榮民總醫院遺傳諮詢中心 - 歷年診斷人數統計

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歷年診斷人數統計

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歷年診斷人數統計


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

最後更新： 2023/03/22 19:00:33