| Genetic disorder | Diagnostic findings | Symptoms | Inheritance pattern |
| Argininemia (ARG) | Plasma arginine 3-4x normal | Poor feeding, vomiting, lethargy, tachypnea | AR |
| Argininosuccinic academia (ASA) | Elevated plasma ammonia | Seizures, poor feeding, failure to thrive, lethargy or coma | AR |
| B-Ketothiolase deficiency (BKT) | Increase citrulline level and/or prescence of argininosuccinic acid | Lethargy, poor feeding, hypoglycemia, metabolic acidosis, ketonuria | AR |
| Biotinidase deficiency (BIOT) | Urine organic acid, plasma acylcarnitine and serum biotindase assay with elevated Biotin | Hypotonia, seizures, eye disorders, developmental delay | AR |
| Carbamoylphosphate synthetase deficiency (CPS) | Elevated levels of biotin | Hyperammonia, seizures, failure to thrive, lethargy, coma | AR |
| Acylcarnitine translocase deficiency (CACT) | Elevated ammonia and citrulline levels | Respiratory insufficiency, hypoglycemia, severe illness | AR |
| Carnitine uptake deficiency (CUD) | Low ketone level | Lethargy, hypotonia, hepatomegaly, and cardiac anomalies | AR |
| Citrullinemia (CIT) | Plasma acylcarnitine level >16:1 | Hyperammonemia, seizures, failure to thrive, lethargy, coma | AR |
| Congenital adrenal hyperplasia (CAH) | Elevated free and total carnitine | Atypical genitalia (female) | AR |
| Congenital hypothyroidism (CH) | Elevated plasma ammonia | Severe adrenal crisis, shock, and sudden death | AR/spnt |
| Congenital toxoplasmosis (TOXO) | Elevated citrulline level | Usually initially asymptomatic Prolonged jaundice, large fontanelle, umbilical hernia, puffy facies | Infectious |
| Cystic Fibrosis (CF) | Low sodium | Premature birth, low birth weight, swollen lymph nodes, bruises, jaundice, anema, enlarged liver/spleen | AR |
| Galactosemia (GALT) | Elevated potassium | Respiratory symptoms: coughing, wheezing, chronic infection, foul smelling bowel movements, poor weight gain | AR |
| Primary or secondary | Hypoglycemia | Few symptoms. If untreated, cataracts develop later in life | AR |
| Glutaric acidemia Type 1 (GA1) | Increased serum 17-OHP | Macrocephalic | AR |
| Homocysturinuria (HCY) | Later signs: metabolic acidosis, failure to thrice, sytonia and athestosis | AR | |
| 3-hydroxy-3-methyl glutaric aciduria (HMG) | Reduced free T4 | Asymptomatic as neonate | AR |
| Isovaleric academia (IVA) | Elevated TSH | Later signs: mental retardation, ectopia lentis, skeletal deformities | AR |
| Long chain L-3-OH acylCoA dehydrogenase deficiency (LCHAD) | Positive toxoplasma gondii | Metabolic acidosis, hypoglycemia | AR |
| Maple syrup disease (MSUD) | Positive genetic testing for CFTR/CF R117H gene | Metabolic 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 erythrocytes | Hepatomegaly, cardiomyopathy, lethargy, hypoketotic hypoglycemia, elevated transaminases, elevated creatine phosphokinase, lactice acidosis, and failure to thrive. High risk of mortality if not treated | AR |
| 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 fibroblasts | Untreated: irreversible mental retardation, hyperactivity, failure to thrive, seizures, coma, cerebral edema. High risk of mortality | AR |
| Hemoglobin S/C disease (HbSC) | Increase homocysteine and methionine in plasma | May be asymptomatic in neonates | AR |
| Hemoglobin S/Beta- Thalassemia (Hb S/BetaTh) | Elevated homocysteine in urine | Elevated liver enzymes, developmental delay, vomiting, headaches, and seizures | AR |
| Medium chain acyl-CoA dehydrogenase deficiency (MCAD) | Elevated organic acids | Asymptomatic in neonates | AR |
| 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 neonates | XLR |
| Severe combined immunodeficiency (SCID) | Presence of isovalerylglycine in urine organic acid | Hemolytic anemia, vaso-occlusive disease. Complications include: splenic sequestration, pneumonia, life-threatening infection, dactylitis, priapism, stroke | AR |
| Tyrosinemia type 1 (TYR-1) | Plasma acylcarnitine and urine organic acids with characteristic pattern of LCHAD | Usually asymptomatic in neonates | AR |
| Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) | Elevated plasma levels of leucine, isoleucine, alloleucine, and valine | Hemolytic anemia, vaso-occlusive disease. Complications include: splenic sequestration, pneumonia, life-threatening infection, pain episodes, aplastic crisis, dactylitis, priapism, stroke |