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Healthcare: Newborn Disorder screening Cheat Sheet (DRAFT) by [deleted]

Healthcare: Newborn Disorder screening

This is a draft cheat sheet. It is a work in progress and is not finished yet.


These tests are intended to detect disorders that could result in compli­cations such as early mortality or lifelong disabi­lity. Generally, most states only test for selected disorders and not all states do the same screening tests. It is important to be informed about any and all tests that are available for a new born baby


Stat­istical Occura­nce
1. 3-Meth­ylc­rot­ony­l-CoA carbox­ylase deficiency (3MCC)
2. 3-OH 3-CH3 glutaric aciduria (HMG) or 3-hydr­oxy­-3m­eth­ylg­lut­ary­l-CoA lyase deficiency
3. Argini­nos­uccinic acid lyase deficiency (ASAL)
1 in 70,000
4. Beta-k­eto­thi­olase deficiency (BKD)
1 in 75,000
5. Biotin­idase deficiency (BIOT
6. Carnitine transp­orter deficiency (CTD) or carnitine uptake defect (CUD)
1 in 40,000
7. Citrul­linemia (CIT)
8. Congenital adrenal hyperp­lasia (CAH)
1 in 18,000
9. Congenital hypoth­yro­idism (HYPOTH):
1 in 3,000
10. Cystic fibrosis (CF)
1 in 30,000­-60,000
11. Galact­osemia (GALT)
12. Glucos­e-6­-ph­osphate dehydr­ogenase deficiency (G6PD)
13. Glutaric acidemia type I (GA I)
14. Hb S/Beta­-th­ala­ssemia (Hb S/Th)
15. Hb S/C disease (Hb S/C)
16. Hearing deficiency
3-4 in 1,000
17. Homocy­sti­nuria (HCY
1 in 200,000
18. Isovaleric academia (IVA
1 in 230,000
19. Long-chain L-3-OH acyl-CoA dehydr­ogenase deficiency (LCHAD)
20. Maple syrup urine disease (MSUD)
< 1 in 100,000
21. Medium chain acyl-CoA dehydr­ogenase deficiency (MCAD)
22. Methyl­malonic acidemia (MMA, Cbl A,B)
23. Methyl­malonic acidemia with Homocy­sti­nuria (MMA + HCU)
24. Medium chain acyl-CoA dehydr­ogenase deficiency (MCAD
1 in 16,000
25. Phenyl­ket­onuria (PKU
1 in 25,000
26. Propionic acidemia (PROP)
27. Sickle cell anemia (SCA)
1 in 400 African Americans
28. Trifun­ctional protein deficiency (TFP)
29. Tyrosi­nemia type I (TYR I)
1 in 100,000
30. Very long-chain acyl-CoA dehydr­ogenase deficiency (VLCAD)

The most common disorders tested for

Phenyl­ket­onuria (PKU)
Congenital Hypoth­yro­idisim
Maple Syrup Urine Disease
Homocy­sti­nuria, Biotin­idase
Sickle Cell Disease
Congenital Adrenal Hyperp­lasia
Cystic Fibrosis.