• Information
  1. Errors Presenting Before or Soon After Birth
  2. Deterioration Patterns of Metabolic Disorders
  3. Neonatal Hyperammonemia

A. Errors Presenting Before or Soon After Birth

1. Seizures / Apnea
   1. Pyridoxine dependency
   2. Peroxisomal disorders
   3. Molybdenum cofactor deficiency
   4. Non-ketotic hyperglycinemia (elevated glycine)
   5. Congenital lactic acidosis
2. Severe Hypotonia
   1. Peroxisomal disorders
   2. Non-ketotic hyperglycinemia
   3. Congenital lactic acidosis
   4. Carbohydrate deficient glycoprotein syndromes
3. Ascites / Non-immune Hydrops
   1. Various lysosomal storage disorders
   2. Erythrocyte enzyme deficiencies: G6PD, glucose phosphate, or pyruvate kinase deficiencies
   3. Respiratory chain disorders including Pearson syndrome
   4. Neonatal hemochromatosis (unclear cause)
   5. Carbohydrate deficient glycoprotein syndromes (rare)
   6. Glycogen storage disease type IV (rare)
4. Dysmorphism
   1. Peroxisomal disorders
   2. Disorders of cholesterol synthesis
   3. Various lysosomal disorders
   4. Carbohydrate deficient glycoprotein syndromes
   5. Congenital lactic acidosis
   6. Glutaric aciduria type II
   7. 3-hydroxyisobutyryl-coenzyme A deacylase deficiency

B. Deterioration Patterns of Metabolic Disorders

1. Liver Disease
   1. Galactosemia
   2. alpha1-antitrypsin deficiency
   3. Respiratory chain disorders
   4. Neonatal hemochromatosis
   5. Disorders of fatty acid oxidation
   6. Tyrosinemia Type 1
   7. Niemann-Pick Type C
   8. Hereditary fructose intolerance (rare)
2. Acid-Base Disorders
   1. Metabolic acidosis
   2. Organic acidemias
   3. Congenital lactic acidosis
   4. Fructose 1,6 bisphosphatase deficiency
   5. Ketolysis defects
   6. Respiratory alkalosis
   7. Hyperammonemia
3. Cardiac Disorders
   1. Disorders of fatty acid oxidation
   2. Respiratory chain disorders
   3. Carbohydrate deficient glycoprotein syndromes
   4. Congenital hyperinsulinism
   5. Glycogen storage disease Type IV (rare)
   6. Pompe's Disease (rare)
4. Neurological Deterioration
   1. Hyperammonemia
   2. Organic acidemias
   3. Maple syrup urine disease
   4. Disorders of fatty acid oxidation
   5. Congenital lactic acidosis
   6. Peroxisomal disorders
   7. Non-ketotic hyperglycinemia (elevated glycine)
   8. Molybdenum cofactor deficiency
   9. Remethylation defects (rare)
5. Hypoglycemia
   1. Endocrine disorders
   2. Disorders of fatty acid oxidation
   3. Fructose 1,6 bisphosphatase deficiency
   4. Glycogen storage disease type 1
   5. Respiratory chain disorders
   6. Organic acidemias
   7. Hereditary fructose intolerance (rare)

C. Neonatal Hyperammonemia

1. Inherited Disorders
   1. Dirosers of urea cycle
   2. Organic acidemias
   3. Fatty-acid oxidation disorders
   4. Hyperornithinemia
   5. Hyperornithenemia, hyperammonemia, homocitrolinemia (HHH Syndrome; rare)
   6. Ornithine aminotransferase deficiency (rare)
   7. Pyruvate carboxylase deficiency (rare)
2. Acquired Disorders
   1. Any severe illness
   2. Birth asphyxia
   3. Total parenteral nutrition
   4. Herpes simplex virus (rare)
   5. Transient hyperammonemia of the neonate (rare)

References

1. Leonard JV and Morris AAM. 2000. Lancet. 356(9229):583