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Methylmalonic acidemia: A megamitochondrial disorder affecting the kidney
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Journal Article
Methylmalonic acidemia: A megamitochondrial disorder affecting the kidney
2014
Overview
Background
Classical (or isolated) methylmalonic acidemia (MMA) is a heterogeneous inborn error of metabolism most typically caused by mutations in the vitamin B12-dependent enzyme methylmalonyl-CoA mutase (MUT). With the improved survival of individuals with MMA, chronic kidney disease has become recognized as part of the disorder. The precise description of renal pathology in MMA remains uncertain.
Methods
Light microscopy, histochemical, and ultrastructural studies were performed on the native kidney obtained from a 19-year-old patient with
mut
MMA who developed end stage renal disease and underwent a combined liver–kidney transplantation.
Results
The light microscopy study of the renal parenchyma in the MMA kidney revealed extensive interstitial fibrosis, chronic inflammation, and tubular atrophy. Intact proximal tubules were distinguished by the widespread formation of large, circular, pale mitochondria with diminished cristae. Histochemical preparations showed a reduction of cytochrome c oxidase and NADH activities, and the electron microscopy analysis demonstrated loss of cytochrome c enzyme activity in these enlarged mitochondria.
Conclusions
Our results demonstrate that the renal pathology of MMA is characterized by megamitochondria formation in the proximal tubules in concert with electron transport chain dysfunction. Our findings suggest therapies that target mitochondrial function as a treatment for the chronic kidney disease of MMA.
Publisher
Springer Berlin Heidelberg,Springer,Springer Nature B.V
Subject
Amino Acid Metabolism, Inborn Errors - complications
/ Amino Acid Metabolism, Inborn Errors - metabolism
/ Amino Acid Metabolism, Inborn Errors - pathology
/ Atrophy
/ Complications and side effects
/ Dialysis
/ Enzymes
/ Female
/ Humans
/ Kidney Diseases - metabolism
/ Kidney Tubules, Proximal - pathology
/ Medicine
/ Metabolism, Inborn Errors - complications
/ Metabolism, Inborn Errors - metabolism
/ Metabolism, Inborn Errors - pathology
/ Methylmalonyl-CoA Mutase - genetics
/ Mitochondrial Diseases - complications
/ Mitochondrial Diseases - metabolism
/ Mitochondrial Diseases - pathology
/ Mutation
/ Patients
/ Urology
