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).
Reviewed By:
Steven C. Schachter MD
on:
Wednesday, March 31, 2004