Fig.3.

Organ pathology in methylmalonic acidemia. Liver and kidney pathology from patients with mut⁰ methylmalonic acidemia are presented. Mild steatosis (A), lipid-laden stellate cells (white arrows) (B), with abnormal mitochondrial ultrastructure on transmission electron microscopy (EM) (pale mitochondria with absent or disorganized cristae, yellow arrowheads) are observed in patient livers. Tubulointerstitial nephritis with patchy interstitial chronic inflammation and tubular dilation (A), proximal tubule vacuolization (B) (white arrows), and enlarged mitochondria with disorganized cristae (yellow arrowhead) along with large remnant vacuoles that contained amorphous membranous inclusions (black arrow) on transmission EM are present in patient kidneys. Pathology was obtained from explanted organs after a combined liver and kidney transplantation procedure. Patients were enrolled in the clinical study: NCT00078078.