Newborn Screening in Nebraska
REQUIRED TESTS

Every baby born in Nebraska is required to have testing for the following treatable disorders.

Condition

Testing for

Effects if Not Treated

Treatment

Biotinidase Deficiency

p-aminobenzoate

Developmental disabilities, seizures, deafness, blindness, skin rash

​Daily oral Rx Biotine

Congenital Adrenal Hyperplasia (CAH)

Steroid 17-alpha hydroxyprogesterone levels/reflex to extracted 17-OHP on subset of specimens

Variable: ambiguous genitalia, adrenal "salt-wasting" crisis with possible mortality

​Steroid replacement and monitoring by pediatric Endocrinologist appropriate emergency intervention

Congenital Primary Hypothyroidism (CPH)

Thyroxin (T 4) reflex to Thyroid Stimulating Hormone (TSH)  on T4's in lowest 10%

Severe developmental disabilities and growth

​Thyroid Hormone treatment

Cystic Fibrosis (CF)

Immunoreactive trypsinogen (IRT) levels/reflex to DNA on subset of specimens

Variable: pancreatic insufficiency, failure to thrive, decreased pulmonary function, respiratory infection risk , possible mortality

​Management by Accredited CF Center Team

Galactosemia

Total galactose & uridyl- transferase

Septicemia, cataracts, developmental disabilities, cirrhosis, ovarian failure, death if untreated

​Lactose-free diet
​Severe Combined Immune Deficiency (SCID) ​T-cell receptor excision circles as a marker of T-cell production. ​May suffer from repeated infections, death if untreated ​Early intervention to prevent infection and bone marrow stem cell transplant.

Hemoglobinopathies
Including Sickle Cell Disease, Sickle-Hemoglobin C Disease, and Sickle Beta Thalassemia

Hemoglobins
F A S & C

Anemia, septicemia, painful crisis, acute chest syndrome, splenomegaly, stroke, high mortality rate

​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

Hypoglycemia, vomiting, coma, possible seizures & possible death. Possible developmental disability if survive metabolic crisis.

​Prevent fasting, follow low-fat diet and carnitine supplements. If illness presents, hospitalization to prevent 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

Varies depending on condition.   Failure to thrive, metabolic acidosis, vision problems, skeletal problems, severe developmental disabilities, seizures, and possibly death.  

​Special metabolic 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

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 with a metabolic specialist, special formulas, and diet.

VITAMIN METABOLISM CONDITIONS including:

-Multiple 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 by condition but can include,   mental retardation, seizures, nerve and brain cell damage and possibly death.

​Vitamin supplementation (pharmaceutical doses) and monitoring by metabolic specialist.

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