SUMMARY OF MANDATED DISORDERS SCREENED FOR BY THE PROGRAM |
Condition |
Testing for |
Estimated Incidence |
Effects if Not Treated |
Treatment |
Biotinidase Deficiency |
p-amino benzoate |
1:112,000 (Profound)
*Found more often in Nebraska newborns
|
Mental retardation, seizures, deafness, skin rash, hair loss.
May have lethargy, breathing problems, enlarged spleen & liver, and coma. |
Normal development.
Treatment is prescribed doses of oral Biotin.
|
Congenital Adrenal Hyperplasia (CAH) |
Steroid 17-alpha hydroxyprogesterone levels/reflex to extracted 17-OHP on subset of specimens |
1:15,981 |
Variable:
Girls may be mislabeled as males
Adrenal "salt-wasting" crisis:
- poor feeding, vomiting
- loose stools or diarrhea
- weak cry
- failure to thrive
- dehydration
- lethargy
May result in infant death, or permanent brain injury. |
Prevent infant death, prevent incorrect sex labeling, and prevent problems from too much adrenal hormone
Treatment: Steroid (Cortisol), Emergency medications
|
Congenital Primary Hypothyroidism (CPH) |
Thyroxin (T 4) & Thyroid Stimulating Hormone (TSH) |
1:3000 to 1:4000 |
Severe mental retardation, growth retardation |
Normal development
Treatment is with daily thyroid hormone |
Cystic Fibrosis (CF) |
Immunoreactive trypsinogen levels/reflex to DNA on subset of specimens |
1:7000 to 1:14000 |
Varies from mild to severe: poor function of the pancreas, failure to thrive, cough & wheeze, poor lung function, high risk for lung infection |
Better growth and development, better quality of life, less and shorter hospital stays, avoid lung infection, and longer life
Treatments include nutritional supplements, medications and other therapies.
|
Galactosemia |
Total galactose & uridyl- transferase |
1:47,000 |
Poor feeding, vomiting & diarrhea, jaundice, enlarged liver, blood system infection, cataracts, mental retardation, ovarian failure, failure to thrive, death if untreated |
Prevent infant death
Varies from much improved to normal development
Treatment is a lactose-free diet
|
Hemoglobinopathies Including Sickle Cell |
Hemoglobins
F A S & C |
1:2,000 - 1:2,500* (more common in certain ethnic groups) |
Varies from moderate to severe: anemia, severe pain, blood system infection, acute chest syndrome, enlarged spleen, stroke and high death rate |
Prevent infant death and reduce severity of symptoms
Treatment includes: daily penicillin, folic acid, pain management and parent education & counseling
Some patients may need blood
|
FATTY ACID CONDITIONS including:
-Carnitine Update Defect
-Medium Chain Acyl Co-A Dehydrogenase Deficiency (MCAD)
-Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
-Trifunctional Protein Deficiency (TFP)
-Very Long-chain Acycl-CoA Dehydrogenase Deficiency (VLCAD)
|
Acylcarnitine Profile
|
Collective incidence unknown
1:12000 for MCAD, varies or unknown for others
|
Metabolic crisis which includes: very low blood sugar, vomiting, possible seizures, coma and possible death
Developmental problems may occur if the child has and survives the above.
|
Prevents infant death
Treatment: avoid fasting, eat a low-fat diet, and may supplement with carnitine.
If child gets ill, hospitalize for preventive treatment to avoid metabolic crisis.
|
AMINO ACID CONDITIONS including:
-Arginiosuccinic Acidemia (ASA)
-Citrullinemia (CIT)
-Homocystinuria (HCY)
-Isovaleric Acidemia (IVA)
-Maple Syrup Urine Disease (MSUD)
-Methylmalonic Acidemia (MUT) or (Cbl A and B)
-Phenylketonuria (PKU)
-Propionic Acidemia (PA)
-Tyrosinemia (TYR)
-3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) |
Amino Acid profile |
1:12000 for PKU, varies or unknown for others |
Varies by condition but can include, mental retardation, seizures, nerve and brain cell damage |
Normal development or at least minimized effects.
Treatment is a diet with special formula and foods. |
ORGANIC ACID CONDITIONS including:
-Beta-ketothiolase Deficiency (BKT)
-Glutaric Acidemia type 1 (GA1)
-3-Hydroxy 3-Methyl Glutaric Aciduria HMG) |
Amino acid and acylcarnitine profiles |
varies or unknown |
Metabolic crisis which includes: very low blood sugar, vomiting, possible seizures, coma and possible death
Developmental problems may occur if the child has and survives the above. May also include heart problems.
|
Close monitoring, special formulas and diet. |
VITAMIN METABOLISM CONDITIONS including:
-Mutiple Carboxylase Deficiency (MCD)
- (Cbl A and B) amino acid and vitamin disorder
-(Biotinidase Deficiency is also in this category but not screened by tandem mass spectrometry)
|
Amino acid and acylcarnitine profiles |
varies or unknown |
Varies by condition but can include, mental retardation, seizures, nerve and brain cell damage and possibly death. |
Pharmaceutical doses of deficient vitamins |