Support information on page: Developmental Disorders > Metabolic & Genetic Disorders > Age of onset

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)
• MELAS, MERRF
• 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 (www.elsevier.com).
Reviewed May 2004 by Steven C. Schachter, MD, epilepsy.com Editorial Board.