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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

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.

J Pediatr 2011 Nov 23;159(5):862-4. Epub 2011 Jul 23.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

Methylmalonic acidemia (MMA) is a heterogeneous disorder, with onset from infancy to adulthood and varying degrees of organ involvement and severity. Cardiac disease is a known lethal complication of other organic acidemias, but has not been associated with MMA. We identified 3 patients with MMA and cardiac disease. Read More

Expert Rev Neurother 2008 Nov;8(11):1731-41

Department of Neurology, University of South Florida College of Medicine, Tampa, FL 33606, USA.

The association of genetic factors and cerebral infarction (CI) has long been established. A positive family history alone is a recognized risk factor for CI and vascular events in general. However, there are certain inherited conditions that further increase the risk of stroke. Read More

Am J Transplant 2007 Dec 1;7(12):2782-7. Epub 2007 Oct 1.

Department of Transplant Surgery, National Center for Child Health and Development, Tokyo, Japan.

Application of liver transplantation to methylmalonic acidemia (MMAemia) is controversial because MMAemia is caused by a systemic defect of methylmalonyl-CoA mutase. The clinical courses of seven pediatric patients with MMAemia undergoing living donor liver transplantation (LDLT) were reviewed. Serum and urinary methylmalonic acid (MMA) levels were found to be significantly decreased after LDLT, whereas serum and urinary MMA levels did not return to normal in any patient. Read More

J Pediatr 2002 Feb;140(2):261-3

Liver Unit, Birmingham Children's Hospital, United Kingdom.

It is believed that liver transplantation may improve the outcome of early onset methylmalonic acidemia. We report a case of methylmalonic acidemia in which successful liver transplantation in infancy failed to prevent neurologic damage caused by a metabolic stroke. Read More

J Pediatr 1989 Sep;115(3):499-500

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