Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2015 Sep 16;3(1):104-105.
doi: 10.1002/mdc3.12237. eCollection 2016 Jan-Feb.

Methylmalonic Aciduria: A Treatable Disorder of Which Adult Neurologists Need to Be Aware

Affiliations

Methylmalonic Aciduria: A Treatable Disorder of Which Adult Neurologists Need to Be Aware

Ai Huey Tan et al. Mov Disord Clin Pract. .
No abstract available

Keywords: ataxia; dystonia; epilepsy; methylmalonic acidemia; methylmalonic aciduria; pallidum.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Axial T2‐weighted brain MRI (A), showing striking hyperintensity in the pallidum bilaterally, with corresponding areas of hypointensity on T1 sequence (B). There is also prominent cerebral (B) and cerebellar atrophy (C) as well as hyperintensity in the posterior periventricular regions bilaterally on T2 FLAIR (D). There were no areas of abnormal signal on gradient‐echo sequence (not shown).

References

    1. Baumgartner MR, Horster F, Dionisi‐Vici C, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis 2014;9:130. - PMC - PubMed
    1. Manoli I, Venditti CP. Methylmalonic acidemia In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993. –2014. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1231/. 16 August 2005 [updated 28 September 2010]. Accessed 25 December 2014.
    1. Nicolaides P, Leonard J, Surtees R. Neurological outcome of methylmalonic acidaemia. Arch Dis Child 1998;78:508–512. - PMC - PubMed
    1. Baker EH, Sloan JL, Hauser NS, et al. MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia. AJNR Am J Neuroradiol 2014;35:1–8. - PMC - PubMed
    1. Chakraborti S, Hasegawa H, Lumsden DE, et al. Bilateral subthalamic nucleus deep brain stimulation for refractory total body dystonia secondary to metabolic autopallidotomy in a 4‐year‐old boy with infantile methylmalonic acidemia: case report. J Neurosurg Pediatr 2013;12:374–379. - PubMed