Inherited metabolic diseases

Neonatal period to early infancy

  • Pyridoxine dependency, biotinidase deficiency
  • Amino acidopathies, organic acidopathies
  • Urea cycle disorders
  • Menkes' syndrome, Alpers' disease
  • Glucose transporter protein deficiency
  • Molybdenum cofactor deficiency
  • Peroxisomal and mitochondrial diseases

Late infancy to early childhood

  • Lysosomal storage diseases
  • Neuronal ceroid-lipofuscinoses, Haltia-Santavuori variant (CLN1)
  • Leigh disease
  • Cockayne's syndrome

Childhood and adolescence

  • Juvenile Gaucher's disease
  • Juvenile GM2 gangliosidosis
  • Multiple sulfatase deficiency
  • Sanfilippo's syndrome
  • Sialidosis
  • Neuronal ceroid-lipofuscinosis, juvenile (CLN3)
  • Unverricht-Lundborg disease
  • Lafora's disease

MELAS = mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
MERRF = myoclonic epilepsy with ragged red fibers.

Adapted from: Kolodny, EH. Metabolic and genetic disorders. In: Devinsky O and Westbrook LE, eds. Epilepsy and Developmental Disabilities. Boston: Butterworth-Heinemann; 2001;17-22.
With permission from Elsevier (

Authored By: 
EH Kolodny
Reviewed By: 
Steven C. Schachter
Sunday, February 29, 2004