Diseases Detectable Through Supplemental Screening

All the following diseases and conditions are currently detectable through newborn screening.  At the present time, the same filter paper blood spot specimen can test for approximately 55 diseases (using several different screening methodologies/equipment). 

We are currently in need of assistance with developing the disease descriptions section on our web site. At this time for your convenience, we have linked the disease descriptions to external sites which describe each individual disease. This information is provided as a courtesy for educational purposes only and should not be considered complete or exhaustive or as a basis for diagnosis of medical conditions. For more information about these disorders please consult with a physician. Please note that many of the external links are not Canadian in nature. If you would care to assist us with developing these web pages please click here. For information about support groups, medical/professional organizations, etc. within Canada please click here.

1. 2-Methylbutyryl-CoA Dehydrogenase Deficiency (2MBC)
2. 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG)
3. 3-Ketothiolase Deficiency {aka Mitochondrial Acetoacetyl-Coa Thiolase Deficiency, or Beta-Ketothiolase Deficiency} (BKT)
4. 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
5. 3-Methylglutaconyl-CoA Hydratase Deficiency (3MGH)
6. Argininemia Deficiency {aka Arginase Deficiency}
7. Argininosuccinic Aciduria Deficiency {ASA Lyase Deficiency} 2 Forms (ASA or
       a. Acute Onset
       b. Late Onset
8. Biotinidase Deficiency (BTD) 2 Forms
       a. Complete Deficiency
       b. Partial Deficiency
9. Carnitine/Acylcarnitine Translocase Deficiency (Translocase) (CACT)
10. Citrullinemia {ASA Synthetase Deficiency} (CIT) 2 Forms
         a. Acute Onset
         b. Late Onset
11. Congenital Adrenal Hyperplasia* (CAH) 2 Forms 
         a. Salt Wasting 21-Hydroxylase Deficiency
         b. Simple Virilizing 21-Hydroxylase Deficiency
12. Congenital Hypothyroidism*
13. Cystic Fibrosis (CF)
14. Galactosemi* 3 Forms
         a. Galactokinase Deficiency
         b. Galactose-1-Phosphate Uridyl Transferase Deficiency
         c. Galactose-4-Epimerase Deficiency
15. Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
16. Glutaric Aciduria Type I (GA1)
17. Glutaric Acidemia Type II (GA2) {aka Multiple Acyl-CoA Dehydrogenase Deficiency MADD)}
18. Homocystinuria (CBS)
19. Hypermethioninemia
20. Isobutyryl-CoA Dehydrogenase Deficiency
21. Isovaleric Acidemia (IVA) 2 Forms
         a. Acute Onset
         b. Chronic
22. Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) {aka 3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency}
23. Maple Syrup Urine Disease (MSUD) 2 Forms
         a. Classical MSUD
         b. Intermediate MSUD
24. Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
25. Methylmalonic Acidemia (MMA)
    1. Methylmalonyl-CoA Mutase Deficiency 0 (Mut 0)
       1. Vitamin B-12 non-responsive
    2. Methylmalonyl-CoA Mutase Deficiency + (Mut +)
    3. Some Adenosylcobalamin Synthesis Defects (Cbl A, B, C and D)
       1. Vitamin B12 Responsive (Cbl A and B)
    4. Maternal Vitamin B12 Deficiency
26. Multiple CoA Carboxylase Deficiency (MCCD)
27. Neonatal Carnitine Palmitoyl Transferase Deficiency Type II (CPT-II)
28. Phenylketonuria (PKU) 3 Forms
         a. Classical PKU
         b. Hyperphenylalaninemia
         c. Biopterin Cofactor Deficiencies (4)
29. Propionic Acidemia (PA) 2 Forms
         a. Acute onset
         b. Late onset
30. Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCADD)
31. Sickle Cell Disease (SCD) including:
         a. Thalassemia
         b. Hemoglobinopathies
32. Trifunctional Protein Deficiency (TFP)
33. Tyrosinemia (TYR) 4 Forms
         a. Tyrosinemia Type I (TYR I)
         b. Tyrosinemia Type II (TYR II)
         c. Tyrosinemia Type III (TYR III)
         d. Transient Neonatal Tyrosinemia
34. Unclassified Fatty Acid Oxidation Disorders (U-FAOD)
35. Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)

*Denotes diseases that are not currently detectable through tandem mass spectrometry screening. Different testing methods must be used to screen for these diseases.

• Hyperalimentation (TPN)
• Liver Disease
• Medium Chain Triglyceride (MCT) Oil Administration
• Presence of EDTA Anticoagulants in Blood Specimen
• Treatment with Benzoate, Pyvalic Acid, or Valproic Acid

Older & High Risk Patients
These disorders do not currently fit the Save Babies Through Screening profile, because they are detectable only after 7 days of age or during crisis.

• 2,4-Dienoyl-CoA Reductase Deficiency
• 5-Oxoprolinuria {aka Pyroglutamic Aciduria}
• Hyperammonemia, Hyperornithinemia, Homocitrullinuria Syndrome (HHH)
• Malonic Aciduria (MA)*