Results 31 to 40 of about 1,276 (185)

POLG1-related mitochondrial disorder with MNGIE- and leigh-like features

Annals of Indian Academy of Neurology, 2020
Josef Finsterer
doaj   +3 more sources

Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy

JIMD Reports, 2022
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disorder characterized by cumulative and progressive gastrointestinal and neurological findings.
Sema Kalkan Uçar, Havva Yazıcı, Ebru Canda, Esra Er, Fatma Derya Bulut, Cenk Eraslan, Hüseyin Onay, Bridget Elizabeth Bax, Mahmut Çoker   +8 more
doaj   +1 more source

Mitochondrial neurogastrointestinal encephalopathy: a clinicopathological mimic of Crohn’s disease

BMC Gastroenterology, 2019
Background Mitochondrial neurogastrointestinal encephalopathy (MNGIE), due to mutations in TYMP, often presents with gastrointestinal symptoms. Two sisters, initially managed for Crohn’s disease based upon clinical, imaging and pathological findings ...
Ravi Patel, Lucia Lee Coulter, Joanna Rimmer, Miles Parkes, Patrick Francis Chinnery, Oscar Swift   +5 more
doaj   +1 more source

Polymeric nanoreactors for enzyme replacement therapy of MNGIE [PDF]

Journal of Controlled Release, 2010
The lack of a crucial metabolic enzyme can lead to accumulating substrate concentrations in the bloodstream and severe human enzyme deficiency diseases. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is such a fatal genetic disorder, caused by a thymidine phosphorylase deficiency.
De Vocht, Caroline, Ranquin, An, Van Ginderachter, Jo, Vanhaecke, Tamara, Rogiers, Vera, Van Gelder, Patrick, Versees, Wim, Steyaert, Jan   +7 more
openaire   +4 more sources

Mitochondrial neurogastrointestinal encephalomyopathy: imaging and clinical findings in three patients

Diagnostic and Interventional Radiology, 2013
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystemic autosomal recessive disorder characterized by ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy.
Gökçen Çoban, Savaş Göktürk, Erkan Yıldırım, Zuhal Çalışkan, Bahriye Horasanlı, Hatice Aysun Akça   +5 more
doaj   +1 more source

Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far

Frontiers in Genetics, 2018
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare metabolic autosomal recessive disease, caused by mutations in the nuclear gene TYMP which encodes the enzyme thymidine phosphorylase.
Dario Pacitti, Michelle Levene, Caterina Garone, Niranjanan Nirmalananthan, Bridget E. Bax   +4 more
doaj   +1 more source

Therapies for Mitochondrial Disease: Past, Present, and Future. [PDF]

J Inherit Metab Dis
ABSTRACT Mitochondrial disease is a diverse group of clinically and genetically complex disorders caused by pathogenic variants in nuclear or mitochondrial DNA‐encoded genes that disrupt mitochondrial energy production or other important mitochondrial pathways. Mitochondrial disease can present with a wide spectrum of clinical features and can often be
Ball M, van Bergen NJ, Compton AG, Thorburn DR, Rahman S, Christodoulou J.   +5 more
europepmc   +2 more sources

Clinicopathology and Diagnosis Delay in a 40-Year-Old with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

Case Reports in Gastroenterology, 2020
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive and fatal multisystem metabolic disorder. It presents with wide-ranging gastrointestinal and neurologic symptoms.
Antonios Tawk, Mohammed Hussein Kamarreddine, Mona Dagher, Ghadi Abboud, Mohamad Chams, Fatmeh Ghandour-Hajj, Mounir Khoury, Said Farhat   +7 more
doaj   +1 more source

Mitochondrial Neurogastrointestinal Encephalomyopathy Treated with Stem Cell Transplantation: A Case Report and Review of Literature

Hematology/Oncology and Stem Cell Therapy, 2015
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder. The mutation in the ECGF1 gene causes severe deficiency of thymidine phosphorylase (TP), which in turn increases thymidine and deoxyuridine in the blood,
Musthafa Chalikandy Peedikayil, Eje Ingvar Kagevi, Ehab Abufarhaneh, Moeenaldeen Dia Alsayed, Hazzaa Abdulla Alzahrani   +4 more
doaj   +1 more source

Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation

Molecular Genetics and Metabolism Reports, 2022
We describe the case of a Greek female patient with the Classic form of the ultra- rare and fatal autosomal recessive disorder Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and the impact of allogeneic hematopoietic stem cell ...
A. Paisiou, M. Rogalidou, R. Pons, E. Ioannidou, K. Dimakou, A. Papadopoulou, F.M. Vaz, G. Vessalas, S.M.I. Goorden, J. Roelofsen, A. Zoetekouw, M.M. Nieman, E. Dimitriou, M. Moraitou, I. Peristeri, H. Michelakakis, A.B.P. van Kuilenburg   +16 more
doaj   +1 more source