Newborn screening

Diagnostic  findingsSymptomsInheritance
Argininemia (ARG)Plasma arginine 3-4x normalPoor feeding, vomiting, lethargy, tachypneaAR
Argininosuccinic academia (ASA)Elevated plasma ammonia Seizures, poor feeding, failure to thrive, lethargy or comaAR
B-Ketothiolase deficiency (BKT)Increase citrulline level and/or prescence of argininosuccinic acid Lethargy, poor feeding, hypoglycemia, metabolic acidosis, ketonuriaAR
Biotinidase deficiency (BIOT)Urine organic acid, plasma acylcarnitine and serum biotindase assay with elevated BiotinHypotonia, seizures, eye disorders, developmental delayAR
Carbamoylphosphate synthetase deficiency (CPS)Elevated levels of biotin Hyperammonia, seizures, failure to thrive, lethargy, coma AR
Acylcarnitine translocase deficiency (CACT)Elevated ammonia and citrulline levelsRespiratory insufficiency,  hypoglycemia, severe illnessAR
Carnitine uptake deficiency (CUD)Low ketone levelLethargy, hypotonia, hepatomegaly, and cardiac anomaliesAR 
Citrullinemia (CIT)Plasma acylcarnitine level >16:1Hyperammonemia, seizures, failure to thrive, lethargy, comaAR
Congenital adrenal hyperplasia (CAH)Elevated free and total carnitine Atypical genitalia (female)AR 
Congenital hypothyroidism (CH) Elevated plasma ammoniaSevere adrenal crisis, shock, and sudden death AR/spnt
Congenital toxoplasmosis (TOXO)Elevated citrulline levelUsually initially asymptomatic Prolonged jaundice, large fontanelle, umbilical hernia, puffy facies Infectious
Cystic Fibrosis (CF)Low sodiumPremature birth, low birth weight, swollen lymph nodes, bruises, jaundice, anema, enlarged liver/spleenAR
Galactosemia (GALT)Elevated potassiumRespiratory symptoms: coughing, wheezing, chronic infection, foul smelling bowel movements, poor weight gainAR
Primary or secondary HypoglycemiaFew symptoms. If untreated, cataracts develop later in lifeAR
Glutaric acidemia Type 1 (GA1)Increased serum 17-OHPMacrocephalicAR 
Homocysturinuria (HCY) Later signs: metabolic acidosis, failure to thrice, sytonia and athestosis AR
3-hydroxy-3-methyl glutaric aciduria (HMG)Reduced free T4Asymptomatic as neonateAR
Isovaleric academia (IVA)Elevated TSHLater signs: mental retardation, ectopia lentis, skeletal deformitiesAR
Long chain L-3-OH acylCoA dehydrogenase deficiency (LCHAD)Positive toxoplasma gondii Metabolic acidosis, hypoglycemiaAR
Maple syrup disease (MSUD)Positive genetic testing for CFTR/CF R117H geneMetabolic ketoacidosis, “sweaty feet” odor, dehydration, hyperammonemia, ketonuria, vomiting, hypoglycemia, and failure to thrive XLR
Ornithine transcarbamylase deficiency (OTC)Deficiency of galactokinase or epimerase activity in erythrocytesHepatomegaly, cardiomyopathy, lethargy, hypoketotic hypoglycemia, elevated transaminases, elevated creatine phosphokinase, lactice acidosis, and failure to thrive. High risk of mortality if not treatedAR
Phenylketonuria (PKU)Increased 3-hydroxyglutaric acid in urine organic acid Feeding intolerance, failure to thrive, vomiting, lethargy and maple syrup order AR
Sickle cell anemia (Hb SS)OR presence of glutarylcarnitine in urine and 3-hydroxyglutaric acid in blood, CSF, and fibroblastsUntreated: irreversible mental retardation, hyperactivity, failure to thrive, seizures, coma, cerebral edema. High risk of mortalityAR
Hemoglobin S/C disease (HbSC)Increase homocysteine and methionine in plasmaMay be asymptomatic in neonatesAR
Hemoglobin S/Beta- Thalassemia (Hb S/BetaTh)Elevated homocysteine in urineElevated liver enzymes, developmental delay, vomiting, headaches, and seizures AR
Medium chain acyl-CoA dehydrogenase deficiency (MCAD)Elevated organic acids Asymptomatic in neonatesAR
Methylmalonic acidemia: cobalamin A, B (Cbl A,B); cobalamin C,D (Cbl C,D), mutase deficiency (MUT)Elevated ketones Untreated: mental retardation, autism-like disorder, hyperactivity and seizures AR
Propionic acidemia (PROP)Elevated plasma level of C5 acylcarnitine Usually asymptomatic in neonatesXLR
Severe combined immunodeficiency (SCID)Presence of isovalerylglycine in urine organic acidHemolytic anemia, vaso-occlusive disease. Complications include: splenic sequestration, pneumonia, life-threatening infection, dactylitis, priapism, strokeAR
Tyrosinemia type 1 (TYR-1)Plasma acylcarnitine and urine organic acids with characteristic pattern of LCHADUsually asymptomatic in neonatesAR
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)Elevated plasma levels of leucine, isoleucine, alloleucine, and valineHemolytic anemia, vaso-occlusive disease. Complications include: splenic sequestration, pneumonia, life-threatening infection, pain episodes, aplastic crisis, dactylitis, priapism, stroke

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