ICIEM Symposium 2013

Journal of Inherited Metabolic Disease

, Volume 37, Issue 4, pp 627-642

First online:

Parkinsonism and inborn errors of metabolism

  • A. Garcia-CazorlaAffiliated withDepartment of Neurology, Hospital Sant Joan de Déu (HSJD)CIBER-ER Biomedical Network Research Centre on Rare Diseases, Instituto de Salud Carlos III Email author 
  • , S. T. DuarteAffiliated withNeuropaediatrics Department, Hospital D. Estefânia, Centro Hospitalar Lisboa CentralInstituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access


Parkinsonism is a frequent neurological syndrome in adulthood but is very rare in childhood. Early forms of Parkinsonism have many distinctive features as compared to Parkinsonism in adults. In fact, rather than Parkinsonism, the general concept “hypokinetic-rigid syndrome” (HRS) is more accurate in children. In general, the terms “dystonia-parkinsonism”, “parkinsonism-plus”, or “parkinsonism-like” are preferred to designate these forms of paediatric HRS. Inborn errors of metabolism (IEM) constitute an important group amongst the genetic causes of Parkinsonism at any age. The main IEM causing Parkinsonism are metal-storage diseases, neurotransmitter defects, lysosomal storage disorders and energy metabolism defects. IEM should not be neglected as many of them represent treatable causes of Parkinsonism. Here we review IEMs causing this neurological syndrome and propose diagnostic approaches depending on the age of onset and the associated clinical and neuroimaging features.