Metabolic Disorders of Infantile Seizures

Amino acidopathies

• Nonketotic hyperglycinemia
• Phenylketonuria

Organic acidopathies

• Glutaric aciduria, types I and II
• 3-Methylcrotonyl aciduria
• Mevalonic acidemia
• Maple syrup urine disease
• Canavan's disease
• Succinate semialdehyde dehydrogenase deficiency
• Other organic acidemias

Glucose homeostasis

• Glycogen storage diseases, types I and III
• Fructose-1,6-bisphosphatase deficiency
• Fat oxidation defects

Biotin metabolism

• Biotinidase deficiency
• Multiple carboxylase deficiency

4-Aminobutyric acid (GABA) metabolism

• GABA-transaminase deficiency
• Pyridoxine-responsive convulsions

Peroxisome biogenesis and metabolism

• Zellweger syndrome
• Neonatal adrenoleukodystrophy
• Infantile Refsum's syndrome
• Pseudo-Zellweger syndrome
• Pseudoneonatal adrenoleukodystrophy

Metal and mineral metabolism

• Primary hypomagnesemia
• Primary hypoparathyroidism
• Menke's disease

Oxidative phosphorylation

• Pyruvate dehydrogenase deficiency
• Respiratory chain complex deficiencies
• Progressive mitochondrial encephalopathy
• Leigh's disease
• Alpers' disease

Storage disorders

• Congenital Batten's disease
• Infantile Krabbe's disease
• Acute infantile Gaucher's disease
• GM1 and GM2 gangliosidosis
• Niemann-Pick disease, type A

Folate metabolism

• 5,10-methylenetetrahydrofolate reductase deficiency
• Congenital folate malabsorption

Others

• Sulfite oxidase deficiency
• Glutathione synthase deficiency

Table adapted from Hopkins A. The causes of epilepsy, the risk factors for epilepsy and the precipitation of seizures. In Hopkins A, Shorvon S, Cascino G (eds), Epilepsy (2nd ed). London: Chapman & Hall Medical, 1995;59-85. From Schachter SC and Lopez MR. Metabolic disorders. In: Ettinger AB and Devinsky O, eds. Managing epilepsy and co-existing disorders. Boston: Butterworth-Heinemann; 2002;203. With permission from Elsevier (www.elsevier.com).