Mov Disord 2014 Jun 21;29(7):870. Epub 2014 Apr 21.
Centro de Medicina Genómica y Metabolismo, Fundación Cardiovascular de Colombia, Colombia; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, USA.
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Neurology 2010 Jan;74(4):e14
Department of Neurology, NIMHANS, Bangalore, India.
AJNR Am J Neuroradiol 2015 Jan 4;36(1):194-201. Epub 2014 Sep 4.
Genetics and Molecular Biology Branch (J.L.S., I.M., C.P.V.).
Background: Bilateral infarcts confined to the globus pallidus are unusual and occur in conjunction with only a few disorders, including isolated methylmalonic acidemia, a heterogeneous inborn error of metabolism. On the basis of neuroradiographic features of metabolic strokes observed in a large cohort of patients with methylmalonic acidemia, we have devised a staging system for methylmalonic acidemia-related globus pallidus infarcts.
Materials And Methods: Forty patients with isolated methylmalonic acidemia and neurologic symptoms underwent clinical brain MR imaging studies, which included 3D-T1WI. Read More
Acta Radiol 2005 Feb;46(1):101-3
Department of Radiology, Suleyman Demirel University School of Medicine, Isparta, Turkey.
Methylmalonic acidemia (MMA) is an inborn disorder of amino acid metabolism, often presenting with neurological symptoms. We present the results of magnetic resonance imaging (MRI) and diffusion-weighted imaging (DWI) of the brain in a 16-month-old male patient with classic neurological and laboratory findings for MMA. MRI demonstrated the hyperintensity within globi pallidi both on T2-weighted image and DWI during the acute episode of metabolic acidosis. Read More
J Pediatr 1988 Dec;113(6):1022-7
Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia.
We report four patients with methylmalonic acidemia who developed acute extrapyramidal disease after metabolic decompensation. The neurologic findings resulted from bilateral destruction of the globus pallidus with variable involvement of the internal capsules. This complication was unrelated to a specific gene defect responsible for methylmalonic acidemia or to cyanocobalamin administration. Read More