Table 2.
Disorders and corresponding genes generally considered by NBS programs.
| IEM currently screened in FWB | Genes | Disorders considered by different NBS programs or initiatives worldwide | Genes |
|---|---|---|---|
| Phenylketonuria | PAH | Cystic Fibrosis | CFTR |
| Phenylketonuria | PTS | Congenital Adrenal Hyperplasia | CYP21A2 |
| Phenylketonuria | GCH1 | Biotinidase deficiency | BTD |
| Phenylketonuria | QDPR | 3-Methylcrotonyl-CoA Carboxylase | MCCC2 |
| Phenylketonuria | PCBD1 | Hemoglobin disorders | HBB |
| MSUD | DBT | Hemoglobin disorders | HBA1 |
| MSUD | BCKDHA | Hemoglobin disorders | HBA2 |
| MSUD | BCKDHB | G6PD deficiency | G6PD |
| Tyrosinemia | FAH | Alpha1-Antitrypsin deficiency | SERPINA1 |
| Tyrosinemia | TAT | Duchenne-Becker dystrophy | DMD |
| Tyrosinemia | HPD | Hurler disease | IDUA |
| Homocystinuria | CBS | Hunter disease | IDS |
| Homocystinuria | MTHFR | Morquio disease | GALNS |
| Homocystinuria | MTRR | Maroteaux-Lamy syndrome | ARSB |
| Homocystinuria | MTR | Gaucher disease | BGBA |
| Galactosemia | GALT | Niemann–Pick A/B disease | SMPD1 |
| Galactosemia | GALK1 | Pompe disease | GAA |
| Galactosemia | GALE | Krabbe disease | GALC |
| Methylmalonic Acidemia | MUT | Fabry disease | GLA |
| Methylmalonic Acidemia | MMACHC | X-Adrenoleukodystrophy | ABCD1 |
| Methylmalonic Acidemia | MMADHC | Spinal Muscular Atrophy | SMN1 |
| Methylmalonic Acidemia | LMBRD1 | Cerebral Creatine deficiency syndrome | GATM |
| Methylmalonic Acidemia | HCFC1 | Cerebral Creatine deficiency syndrome | GAMT |
| Methylmalonic Acidemia | MMAA | Cerebral Creatine deficiency syndrome | SLC6A8 |
| Methylmalonic Acidemia | MMAB | Pyridoxine-Dependent Epilepsy | ALDH7A1 |
| Methylmalonic Acidemia | TCN2 | Pyridoxine-Dependent Epilepsy | PNPO |
| Propionic Acidemia | PCCA | Serine Biosynthesis defect | PHGDH |
| Propionic Acidemia | PCCB | Serine Biosynthesis defect | PSPH |
| Glutaric Aciduria type I | GCDH | Serine Biosynthesis defect | PSAT1 |
| Isovaleric Acidemia | IVD | Severe Combined Immunodeficiency | IL2RG |
| MCAD | ACADM | Severe Combined Immunodeficiency | JAK3 |
| MADD | ETFDH | Severe Combined Immunodeficiency | IL7RA |
| MADD | ETFA | Severe Combined Immunodeficiency | IL2RA |
| MADD | ETFB | Severe Combined Immunodeficiency | PTPRC |
| VLCAD | ACADVL | Severe Combined Immunodeficiency | CD3D |
| Severe Combined Immunodeficiency | CD3E | ||
| Severe Combined Immunodeficiency | CD3Z | ||
| Severe Combined Immunodeficiency | CORO1A | ||
| Severe Combined Immunodeficiency | RAG1 | ||
| Severe Combined Immunodeficiency | RAG2 | ||
| Severe Combined Immunodeficiency | DCLRE1C | ||
| Severe Combined Immunodeficiency | PRKDC | ||
| Severe Combined Immunodeficiency | AK2 | ||
| Severe Combined Immunodeficiency | ADA | ||
| Severe Combined Immunodeficiency | LIG4 | ||
| Severe Combined Immunodeficiency | NHEJ1 | ||
| Severe Combined Immunodeficiency | CD3G | ||
| Severe Combined Immunodeficiency | CD8A | ||
| Severe Combined Immunodeficiency | PNP | ||
| Severe Combined Immunodeficiency | RMRP | ||
| Severe Combined Immunodeficiency | ZAP70 | ||
| Severe Combined Immunodeficiency | CD40LG | ||
| Severe Combined Immunodeficiency | FOXP3 | ||
| Severe Combined Immunodeficiency | IL10RA | ||
| Congenital Hypothyroidisma | TSHR | ||
| Congenital Hypothyroidisma | THRA | ||
| Congenital Hypothyroidisma | THRB | ||
| Congenital Hypothyroidisma | FOXE1 | ||
| Congenital Hypothyroidisma | NKX2–1 | ||
| Congenital Hypothyroidisma | NKX2-5 | ||
| Congenital Hypothyroidisma | PAX8 | ||
| Congenital Hypothyroidisma | SLC26A4 | ||
| Congenital Hypothyroidisma | FOXI1 | ||
| Congenital Hypothyroidisma | KAT6B | ||
| Congenital Hypothyroidisma | KCNJ10 | ||
| Congenital Hypothyroidisma | UBR1 | ||
| Congenital Hypothyroidisma | GNAS | ||
| Congenital Hypothyroidisma | SLC16A2 | ||
| Congenital Hypothyroidisma | TPO | ||
| Congenital Hypothyroidisma | SLC5A5 | ||
| Congenital Hypothyroidisma | DUOX2 | ||
| Congenital Hypothyroidisma | DUOXA2 | ||
| Congenital Hypothyroidisma | IYD | ||
| Congenital Hypothyroidisma | SECISBP2 |
A. IEM screened in the FWB. B. Additional conditions involved in different NBS programs, including some specific treatable disorders not identifiable with reliable biomarkers.aMolecular etiology of congenital hypothyroidism (CH) is not fully understood yet. Only genes currently known as defective in CH are reported.