Table 3.
Conditions | Number of cases | Prevalence |
---|---|---|
Endocrinologic Disorders | ||
Congenital adrenal hyperplasia (classical salt wasting) | 1 | 1:111,127 |
Primary congenital hypothyroidism | 45 | 1: 2,469 |
Transient hypothyroidism | 4 | 1: 27,782 |
Variant hypothyroidism | 1 | 1:111,127 |
Hemoglobinopathies | ||
α-Thalassemia major | 5 | 1: 22,225 |
β-Thalassemia major | 1 | 1: 111,127 |
Hb E/Beta + thalassemia | 1 | 1: 111,127 |
Hb H disease | 93 | 1: 1,195 |
Hb H/constant spring disease | 2 | 1: 55,564 |
Hb variant/beta + thalassemia | 1 | 1: 111,127 |
Homozygous EE | 3 | 1: 37,042 |
Sickle C disease (Hb S/C disease) | 2 | 1: 55,564 |
Sickle cell anemia (Hb S/S disease) | 1 | 1:111,127 |
Amino acid disorders | ||
Phenylketonuria (PKU) | 4 | 1: 27,782 |
Variant hyperphenylalaninemia | 1 | 1:111,127 |
Maple syrup urine disease (MSUD) | 1 | 1:111,127 |
Organic acid disorders | ||
Methylmalonic acidemia (MMA) (mut 0) | 3 | 1: 37,042 |
Methylmalonic acidemia (MMA) (mut –) | 2 | 1: 55,564 |
β-Ketothiolase deficiency (BKT) | 1 | 1: 111,127 |
Isobutyryl-CoA dehydrogenase deficiency (IBDHD) | 1 | 1:111,127 |
Fatty acid oxidation disorders | ||
Medium chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) | 2 | 1:55,564 |
Short chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) | 3 | 1: 37,042 |
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) | 3 | 1: 37,042 |
Other fatty acid oxidation disorder | 2 | 1: 55,564 |
Others | ||
Partial BD deficiency | 1 | 1:111,127 |
CFTR-related metabolic syndrome (CRMS) | 5 | 1:22,225 |
Cystic fibrosis | 5 | 1: 22,225 |
Classical galactosemia | 1 | 1: 111,127 |
Duarte galactosemia (D/G) | 2 | 1: 55,564 |
Other disorders | 2 | 1: 55,564 |
aTotal of 111,127 newborns screened