MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia

Baker, Eva H.; Sloan, Jennifer L.; Hauser, Natalie; Gropman, Andrea; Adams, D.; Toro, Camilo; Manoli, Irini; Venditti, Charles P.

doi:10.3174/ajnr.a4087

Cited by 41 publications

(25 citation statements)

References 28 publications

(36 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Metabolic “strokes”, frequently indicated by significant acute mental status changes or new or worsening abnormal movements, require immediate laboratory and imaging evaluation and reversal of catabolism [12, 17, 22, 34, 65–67, 196–198]. Once dextrose-containing intravenous fluids and treatment of the underlying precipitant are initiated, MRI and magnetic resonance spectroscopy may be performed to evaluate the location and extent of evolving injury [17, 66, 199–202]. Movement disorders or spastic quadra- or paraparesis, potential sequelae of metabolic strokes, should be managed in collaboration with a neurologist and/or physiatrist to allow for optimal function and minimum disability.…”

Section: Chronic Management and Screening Recommendationsmentioning

confidence: 99%

Methylmalonic and propionic acidemias: clinical management update

Fraser

Venditti

2016

Current Opinion in Pediatrics

170

171

View full text Add to dashboard Cite

Purpose of review Recent clinical studies and management guidelines for the treatment of the organic acidopathies methylmalonic acidemia (MMA) and propionic acidemia (PA) address the scope of interventions to maximize health and quality of life. Unfortunately, these disorders continue to cause significant morbidity and mortality due to acute and chronic systemic and end-organ injury. Recent findings Dietary management with medical foods has been a mainstay of therapy for decades, yet well controlled patients can manifest growth, development, cardiac, ophthalmological, renal and neurological complications. Patients with organic acidopathies suffer metabolic brain injury which targets specific regions of the basal ganglia in a distinctive pattern, and these injuries may occur even with optimal management during metabolic stress. Liver transplantation has improved quality of life and metabolic stability, yet transplantation in this population does not entirely prevent brain injury or the development of optic neuropathy and cardiac disease. Summary Management guidelines should identify necessary screening for patients with MMA and PA, and improve anticipatory management of progressive end-organ disease. Liver transplantation improves overall metabolic control, but injury to non-regenerative tissues may not be mitigated. Continued use of medical foods in these patients requires prospective studies to demonstrate evidence of benefit in a controlled manner.

show abstract

Section: Chronic Management and Screening Recommendationsmentioning

confidence: 99%

Methylmalonic and propionic acidemias: clinical management update

Fraser

Venditti

2016

Current Opinion in Pediatrics

170

171

View full text Add to dashboard Cite

show abstract

“…Brain MRI showed striking pallidal T2‐hyperintensity (Fig. ) which, taken with her clinical presentation, led us to suspect MMA . The diagnosis was confirmed by urinary organic acid analysis, which revealed a very large peak of methylmalonic acid (1,229 μmol/mmol of creatinine).…”

Section: Investigationsmentioning

confidence: 86%

“…Catabolic events or protein overload can trigger episodes of acute metabolic decompensation. The characteristic neurological lesion involves the pallidum and patients often have dystonia . The brainstem (including the nigra), cerebellum, and cerebral cortex and white matter may also be involved .…”

Section: Discussionmentioning

confidence: 99%

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

Tan

Mah

Thong

et al. 2015

Movement Disord Clin Pract

View full text Add to dashboard Cite

“…The involvement of the basal ganglia, especially the globus pallidus, is probably due to its high energy demand, rich vascularization and elevated metabolism in that location in the first year of life . The substantia nigra is histologically and functionally similar to the globus pallidus, explaining its susceptibility to the same toxic metabolites …”

Section: Complicationsmentioning

confidence: 99%

“…39 The substantia nigra is histologically and functionally similar to the globus pallidus, explaining its susceptibility to the same toxic metabolites. 40 In contrast to these permanent lesions, stroke-like episodes can also occur (Figure 1, ST1). In a stroke-like episode the process is still reversible, not leading to permanent damage.…”

Section: Brainmentioning

confidence: 99%

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

Haijes

Jans

Tas

et al. 2019

J of Inher Metab Disea

127

View full text Add to dashboard Cite

Over the last decades, advances in clinical care for patients suffering from propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) have resulted in improved survival. These advances were possible thanks to new pathophysiological insights. However, patients may still suffer from devastating complications which largely determine the unsatisfying overall outcome. To optimize our treatment strategies, better insight in the pathophysiology of complications is needed. Here, we perform a systematic data‐analysis of cohort studies and case‐reports on PA and MMA. For each of the prevalent and rare complications, we summarize the current hypotheses and evidence for the underlying pathophysiology of that complication. A common hypothesis on pathophysiology of many of these complications is that mitochondrial impairment plays a major role. Assuming that complications in which mitochondrial impairment may play a role are overrepresented in monogenic mitochondrial diseases and, conversely, that complications in which mitochondrial impairment does not play a role are underrepresented in mitochondrial disease, we studied the occurrence of the complications in PA and MMA in mitochondrial and other monogenic diseases, using data provided by the Human Phenotype Ontology. Lastly, we combined this with evidence from literature to draw conclusions on the possible role of mitochondrial impairment in each complication. Altogether, this review provides a comprehensive overview on what we, to date, do and do not understand about pathophysiology of complications occurring in PA and MMA and about the role of mitochondrial impairment herein.

show abstract

MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia

Cited by 41 publications

References 28 publications

Methylmalonic and propionic acidemias: clinical management update

Methylmalonic and propionic acidemias: clinical management update

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

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

Contact Info

Product

Resources

About