Condition |
Testing for |
Estimated Incidence |
Effects if Not Treated |
Treatment |
Biotinidase Deficiency |
p-aminobenzoate |
1:112,000
*More commonly detected in Nebraska newborns |
Mental retardation, seizures, deafness, blindness, skin rash |
Normal development expected with early treatment 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: ambiguous genitalia, adrenal "salt-wasting" crisis with possible mortality |
Prevention of infant mortality, significantly improved to normal development with steroid replacement and monitoring appropriate emergency intervention. |
Congenital Primary Hypothyroidism (CPH) |
Thyroxin (T 4) & Thyroid Stimulating Hormone (TSH) |
1:3,000
To
1:4000 |
Severe mental retardation, growth retardation |
Normal development expected with early treatment of thyroid hormone |
Cystic Fibrosis (CF) |
Immunoreactive trypsinogen levels/reflex to DNA on subset of specimens |
1:7,000 to 1:14,0000 |
Variable: pancreatic insufficiency, failure to thrive, decreased pulmonary function, respiratory infection risk , possible mortality |
Improved growth and development, possible improved quality of life from fewer hospitalizations, avoidance of respiratory infection |
Galactosemia |
Total galactose & uridyl- transferase |
1:47,000 |
Septicemia, cataracts, mental retardation, cirrhosis, ovarian failure, death if untreated |
Significantly improved to normal development expected with lactose-free diet. |
Hemoglobinopathies
Including Sickle Cell Disease, Sickle-Hemoglobin C Disease, and Sickle Beta Thalassemia |
Hemoglobins
F A S & C |
1:2,000 to 1:2,500 |
Anemia, septicemia, painful crisis, acute chest syndrome, splenomegaly, stroke, high mortality rate |
Prevention of infant mortality and reduced symptoms with penicillin prophylaxis, folic acid, parent education and counseling |
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 |
1:12,000 for MCAD, varies or unknown for others |
Hypoglycemia, vomiting, coma, possible seizures & possible death. Possible developmental disability if survive metabolic crisis. |
Prevention of infant mortality, by preventing fasting, low-fat diet, and some carnitine supplement. If presents with illness, early hospitalization prevents metabolic crisis. |
AMINO ACID CONDITIONS including:
-Argininosuccinic 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 |
1:12,000 for PKU, varies or unknown for others |
Varies depending on condition. Failure to thrive, metabolic acidosis, Vision problems, skeletal problems severe mental retardation, seizures, death is possible. . |
Usually normal development expected with special formula and diet. |
ORGANIC ACID CONDITIONS including:
-Beta-ketothiolase Deficiency (BKT)
-Glutaric Acidemia type 1 (GA1)
-3-Hydroxy 3-Methyl Glutaric Aciduria HMG) |
Amino Acid and Acylcarnitine profies |
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. |
Usually normal development with . Close monitoring iin collaboration with metabolic specialist, special formulas and diet. Critical to avoid metabolic crisis. Urgent hospitalization for illness. |
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 Acyclcarnitine profiles
Beutler and Baluda Enzyme Reation Units |
Varies or unknown |
Varies by condition but can include, mental retardation, seizures, nerve and brain cell damage and possibly death. |
Usually normal development with vitamin supplementation (pharmaceutical doses), monitoring by metabolic specialist. |