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).

Authored By: 
A Hopkins
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Reviewed By: 
Steven C. Schachter MD
on: 
Wednesday, March 31, 2004