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 (T₄) & 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

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

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.