Case of an infant with hepatic cirrhosis caused by mitochondrial respiratory chain disorder

2013 ◽  
Vol 55 (4) ◽  
pp. e103-e106
Author(s):  
Shigehiro Enkai ◽  
Sachi Koinuma ◽  
Reiko Ito ◽  
Junko Igaki ◽  
Yukihiro Hasegawa ◽  
...  
Keyword(s):  
Respiratory Chain ◽  
Hepatic Cirrhosis ◽  
Mitochondrial Respiratory Chain ◽  
Mitochondrial Respiratory Chain Disorder ◽  
Mitochondrial Respiratory

A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy

2017 ◽  
Vol 62 (5) ◽  
pp. 539-547 ◽  
Author(s):  
Nurun N Borna ◽  
Yoshihito Kishita ◽  
Kaori Ishikawa ◽  
Kazuto Nakada ◽  
Jun-Ichi Hayashi ◽  
...  
Keyword(s):  
Respiratory Chain ◽  
Novel Mutation ◽  
Mitochondrial Respiratory Chain ◽  
Mitochondrial Respiratory Chain Disorder ◽  
Mitochondrial Respiratory

scholarly journals NEW DIETARY APPROACH FOR TREATMENT OF MITOCHONDRIAL RESPIRATORY CHAIN DISORDER • 598

1997 ◽  
Vol 41 ◽  
pp. 102-102
Author(s):  
K De Meer ◽  
M J Roef ◽  
B T Poll-The ◽  
J BC De Klerk ◽  
H D Bakker ◽  
...  
Keyword(s):  
Respiratory Chain ◽  
Mitochondrial Respiratory Chain ◽  
Mitochondrial Respiratory Chain Disorder ◽  
Mitochondrial Respiratory

scholarly journals Mitochondrial Disease as a Cause of Neonatal Hemophagocytic Lymphohistiocytosis

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Kazumasa Fuwa ◽  
Mitsuru Kubota ◽  
Masami Kanno ◽  
Hiroshi Miyabayashi ◽  
Ken Kawabata ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Respiratory Chain ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Complex I ◽  
Clinical Course ◽  
Bone Marrow Aspiration ◽  
Mitochondrial Respiratory Chain ◽  
Respiratory Chain Enzyme ◽  
Mitochondrial Respiratory Chain Disorder ◽  
Mitochondrial Respiratory

Diagnosis of mitochondrial respiratory chain disorder (MRCD) is often difficult. Its pathogenesis is still unclear. We diagnosed MRCD by measuring the activity of the mitochondrial respiratory chain enzyme, and the patient also had hemophagocytic lymphohistiocytosis (HLH). A preterm female infant was born at 34 weeks of gestation. On day 6, HLH was revealed by bone marrow aspiration. She died on day 10 due to uncontrollable HLH. An autopsy was performed, and we measured the activity of the mitochondrial respiratory chain enzyme in the liver, muscle, and heart. The activity of complex I was decreased in all tissues. As we could not prove another origin of the HLH, she was diagnosed as having HLH caused by MRCD. It is useful to measure the activity of the mitochondrial respiratory chain enzyme for diagnosing MRCD. MRCD, which has a severe clinical course, may be related to HLH.

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