Authors: Takeshi Sato Koji Muroya Junko Hanakawa Reiko Iwano Yumi Asakura Yukichi Tanaka Kei Murayama Akira Ohtake Tomonobu Hasegawa Masanori Adachi
Publish Date: 2015/06/16
Volume: 174, Issue: 12, Pages: 1593-1602
Abstract
Pearson marrowpancreas syndrome PS is a rare mitochondrial disorder Impaired mitochondrial respiratory chain complexes MRCC differ among individuals and organs which accounts for variable clinical pictures A subset of PS patients develop 3methylglutaconic aciduria 3MGAuria but the characteristic symptoms and impaired MRCC remain unknown Our patient a girl developed pancytopenia hyperlactatemia steatorrhea insulindependent diabetes mellitus liver dysfunction Fanconi syndrome and 3MGAuria She died from cerebral hemorrhage at 3 years of age We identified a novel 54kbp deletion of mitochondrial DNA The enzymatic activities of MRCC I and IV were markedly reduced in the liver and muscle and mildly reduced in skin fibroblasts and the heart To date urine organic acid analysis has been performed on 29 PS patients including our case Eight patients had 3MGAuria while only one patient did not The remaining 20 patients were not reported to have 3MGAuria In this paper we included these 20 patients as PS patients without 3MGAuria PS patients with and without 3MGAuria have similar manifestations Only a few studies have examined the enzymatic activities of MRCC
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