Journal of Inherited Metabolic Disease

, Volume 37, Issue 4, pp 627–642 | Cite as

Parkinsonism and inborn errors of metabolism

  • A. Garcia-CazorlaEmail author
  • S. T. Duarte
ICIEM Symposium 2013


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.


Rotigotine Wilson Disease Neuronal Ceroid Lipofuscinosis Alexander Disease Cerebrotendinous Xanthomatosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Aromatic L-amino acid decarboxylase


Autosomal dominant


Autosomal recessive






Ceroid lipofuscinosis


Cerebrospinal fluid


Cerebrotendinous xanthomatosis


Gamma-aminobutyric acid


GM1 gangliosidosis


globus pallidus (pars externa)


The globus pallidus (pars interna)


Guanosine triphosphate cyclohydrolase-I


5-hydroxyindolacetic acid


Hypokinetic rigid syndrome


Homovanillic acid




Inborn errors of metabolism


Monoamine oxidase


Magnetic resonance imaging


N-methyl-D-aspartate receptor


Neurodegeneration with brain iron accumulation






Pyruvate carboxylase


Parkinson's disease


Positron emission tomography


Pantothenate kinase- associated neurodegeneration


6-pyruvoyl-tetrahydropoterin synthase


Spiny projection neurons


Substantia nigra


Substantia nigra compacta


Substantia nigra reticulata


Single-photon emission computed tomography


Subthalamic nucleus


Tyrosine hydroxylase


Vanillactic acid


Young adult onset Parkinsonism disease



This study was funded by the grant FIS PS09/01132.

Currently, Dr. Sofia Duarte integrates the Portuguese Programme for Advanced Medical Education, sponsored by Calouste Gulbenkian Foundation and Portuguese Foundation for Science and Technology.

Conflict of interest



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© SSIEM and Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  1. 1.Department of NeurologyHospital Sant Joan de Déu (HSJD)BarcelonaSpain
  2. 2.CIBER-ER Biomedical Network Research Centre on Rare DiseasesInstituto de Salud Carlos IIIBarcelonaSpain
  3. 3.Neuropaediatrics DepartmentHospital D. Estefânia, Centro Hospitalar Lisboa CentralLisboaPortugal
  4. 4.Instituto de Medicina MolecularFaculdade de Medicina da Universidade de LisboaLisboaPortugal

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