| 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG CoA lyase deficiency/glutaric aciduria) |
. |
<1 |
5350864 |
| Beta-ketothiolase deficiency (BKT) |
. |
<1 |
5350864 |
| Homocystinuria (cystathionine beta-synthase deficiency, HCY) |
. |
<1 |
5350864 |
| MPS I - not otherwise specified |
. |
<1 |
643218 |
| MPS I - severe (Hurlers) |
. |
<1 |
643218 |
| Multiple carboxylase deficiency (MCD) |
. |
<1 |
5350864 |
| Pompe - classic infant onset (with cardiac involvement) |
. |
<1 |
643218 |
| Pompe - not otherwise specified |
. |
<1 |
643218 |
| Trifunctional protein deficiency (TFP Deficiency) |
. |
<1 |
5350864 |
| Methylmalonic acidemia Cbl A, B (MMA) |
7 |
<1 |
5350864 |
| Long chain hyroxy acyl-CoA dehydrogenase deficiency (LCHAD deficiency) |
9 |
<1 |
5350864 |
| Tyrosinemia type I |
9 |
<1 |
5350864 |
| Argininosuccinyl-CoA lyase deficiency (ASAL deficiency) |
13 |
<1 |
5350864 |
| Pompe - late onset Pompe disease |
13 |
<1 |
643218 |
| Methylmalonic acidemia mut- (MMA) |
14 |
<1 |
5350864 |
| Propionic acidemia (PA) |
17 |
<1 |
5350864 |
| Maple syrup urine disease (MSUD) |
20 |
<1 |
5350864 |
| Methylmalonic acidemia mut 0 (MMA) |
21 |
<1 |
5350864 |
| Congenital adrenal hyperplasia, classical simple virilizing (CAH) |
22 |
<1 |
5350864 |
| Citrullinemia type I (argininosuccinic acid synthetase deficiency (ASAS deficiency)/CIT-1) |
32 |
<1 |
5350864 |
| Isovaleric acidemia (IVA) |
43 |
<1 |
5350864 |
| SCID, severe combined immunodeficiency |
47 |
<1 |
3254273 |
| Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) |
47 |
<1 |
5350864 |
| Glutaric acidemia type I (GA1) |
50 |
<1 |
5350864 |
| Galactosemia, classical |
59 |
1 |
5350864 |
| Carnitine transporter deficiency (CTD)/carnitine uptake defect (CUD) |
73 |
1.2 |
5350864 |
| Biotinidase deficiency profound (BD) |
78 |
1.3 |
5350864 |
| ALD - not otherwise specified |
87 |
1.5 |
1821639 |
| ALD carrier (female) |
98 |
1.7 |
1821639 |
| 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC deficiency) |
145 |
2.5 |
5350864 |
| Phenylketonuria (PKU) |
222 |
3.8 |
5350864 |
| Congenital adrenal hyperplasia, classical salt wasting (CAH) |
229 |
3.9 |
5350864 |
| Medium chain acyl-CoA dehydrogenase deficiency (MCAD Deficiency) |
254 |
4.3 |
5350864 |
| Cystic fibrosis (CF) |
619 |
11 |
5350864 |
| Sickle Cell Disease |
922 |
16 |
5350864 |
| Hypothyroidism, primary congenital (PCH) |
2672 |
46 |
5350864 |
| Total |
5853 |
100 |
5350864 |