Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report

2021 ◽  
Author(s):  
Tomoko Kashiki ◽  
Jun Kido ◽  
Ken Momosaki ◽  
Shouichirou Kusunoki ◽  
Shiro Ozasa ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Case Report ◽  
Epileptic Encephalopathy ◽  
Mitochondrial Dna Depletion ◽  
Mitochondrial Dna Depletion Syndrome

Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report

2009 ◽  
Vol 42 (7-8) ◽  
pp. 742-745 ◽  
Author(s):  
Raquel Montero ◽  
Jose A. Sánchez-Alcázar ◽  
Paz Briones ◽  
Aleix Navarro-Sastre ◽  
Ester Gallardo ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Case Report ◽  
Coenzyme Q10 ◽  
Mitochondrial Dna Depletion ◽  
Mitochondrial Dna Depletion Syndrome

scholarly journals FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review

2019 ◽  
Vol 10 ◽  
Author(s):  
Rami A. Ballout ◽  
Chadi Al Alam ◽  
Penelope E. Bonnen ◽  
Martina Huemer ◽  
Ayman W. El-Hattab ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Case Report ◽  
Mitochondrial Dna Depletion ◽  
Mitochondrial Dna Depletion Syndrome

scholarly journals Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report

2021 ◽  
Vol 12 ◽  
Author(s):  
Andrew D. Franklin ◽  
Bimal P. Chaudhari ◽  
Daniel C. Koboldt ◽  
Kerri Z. Machut
Keyword(s):  
Pulmonary Hypertension ◽  
Mitochondrial Dna ◽  
Case Report ◽  
Respiratory Failure ◽  
Exome Sequencing ◽  
Premature Neonate ◽  
Polymerase Gamma ◽  
Significant Family History ◽  
Mitochondrial Dna Depletion ◽  
Mitochondrial Dna Depletion Syndrome

A 32-week premature infant presented with respiratory failure, later progressing to pulmonary hypertension (PH), liver failure, lactic acidosis, and encephalopathy. Using exome sequencing, this patient was diagnosed with a rare Polymerase Gamma (POLG)-related mitochondrial DNA (mtDNA) depletion syndrome. This case demonstrates that expanding the differential to uncommon diagnoses is important for complex infants, even in premature neonates whose condition may be explained partially by their gestational age (GA). It also shows that patients with complex neonatal diseases with significant family history may benefit from exome sequencing for diagnosis.

MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis – A case report

Mitochondrion ◽  
2017 ◽  
Vol 37 ◽  
pp. 41-45 ◽  
Author(s):  
Anjan Pyal ◽  
Arumugam Paramasivam ◽  
Angamuthu Kannan Meena ◽  
Velpula Bhagya Bhavana ◽  
Kumarasamy Thangaraj
Keyword(s):  
Mitochondrial Dna ◽  
Case Report ◽  
Acute Flaccid Paralysis ◽  
Flaccid Paralysis ◽  
Mitochondrial Dna Depletion ◽  
Mitochondrial Dna Depletion Syndrome

scholarly journals Mitochondrial DNA depletion syndrome presenting with ataxia and external ophthalmoplegia: Case report

2012 ◽  
Vol 13 (3) ◽  
pp. 351-357 ◽  
Author(s):  
Laila Selim ◽  
Dina Mehaney ◽  
Fayza Hassan ◽  
Randa Sabry ◽  
Reham Zeyada ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Case Report ◽  
Mitochondrial Dna Depletion ◽  
Mitochondrial Dna Depletion Syndrome

Hematopoiesis in the thymidine kinase 2 deficient mouse model of mitochondrial DNA depletion syndrome

2010 ◽  
Vol 33 (3) ◽  
pp. 231-236 ◽  
Author(s):  
Xiaoshan Zhou ◽  
Magnus Johansson ◽  
Nicola Solaroli ◽  
Björn Rozell ◽  
Alf Grandien ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mouse Model ◽  
Thymidine Kinase ◽  
Deficient Mouse ◽  
Mitochondrial Dna Depletion ◽  
Mitochondrial Dna Depletion Syndrome ◽  
Thymidine Kinase 2

scholarly journals Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: Evaluation of outcomes after liver transplantation

2020 ◽  
Author(s):  
Masaru Shimura ◽  
Naomi Kuranobu ◽  
Minako Ogawa-Tominaga ◽  
Nana Akiyama ◽  
Yohei Sugiyama ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Mitochondrial Dna ◽  
Mitochondrial Diseases ◽  
Failure To Thrive ◽  
Neurological Complications ◽  
Mild Intellectual Disability ◽  
Initial Manifestation ◽  
Molecular Features ◽  
Mitochondrial Dna Depletion ◽  
Mitochondrial Dna Depletion Syndrome

Abstract Background Hepatocerebral mitochondrial DNA depletion syndrome (MTDPS) is a disease caused by defects in mitochondrial DNA maintenance and leads to liver failure and neurological complications during infancy. Liver transplantation (LT) remains controversial due to poor outcomes associated with extrahepatic symptoms. The purposes of this study were to clarify the current clinical and molecular features of hepatocerebral MTDPS and to evaluate the outcomes of LT in MTDPS patients in Japan.Results We retrospectively assessed the clinical and genetic findings, as well as the clinical courses, of 23 hepatocerebral MTDPS patients from a pool of 999 patients who were diagnosed with mitochondrial diseases between 2007 and 2019. Causative genes were identified in 19 of 23 patients: MPV17 (n = 13), DGUOK (n = 3), POLG (n = 1), and MICOS13 (n = 1). Eight MPV17-deficient patients harbored c.451dupC and all three DGUOK-deficient patients harbored c.143-307_170del335. The most common initial manifestation was failure to thrive (n = 13, 56.5%). The most frequent liver symptom was cholestasis (n = 21, 91.3%). LT was performed on 12 patients, including nine MPV17-deficient and two DGUOK-deficient patients. Among the 12 transplanted patients, five, including one with mild intellectual disability, survived; while seven who had remarkable neurological symptoms before LT died. Five of the MPV17-deficient survivors had either c.149G>A or c.293C>T. Conclusions MPV17 was the most common genetic cause of hepatocerebral MTDPS. The outcome of LT for MTDPS was not favorable, as previously reported, however, patients harboring MPV17 mutations associated with mild phenotypes such as c.149G>A or c.293C>T, and exhibiting no marked neurologic manifestations before LT, had a better prognosis after LT.

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