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

Autor:	Paisiou A; Stem Cell Transplant Unit, Agia Sofia Children's Hospital, Athens, Greece., Rogalidou M; Division of Paediatric Gastroenterology & Hepatology, 1st Department of Paediatrics, National and Kapodistrian University of Athens, Agia Sofia Children's Hospital, Athens, Greece., Pons R; Pediatric Neurology Unit, 1st Department of Pediatrics, , Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Ioannidou E; Stem Cell Transplant Unit, Agia Sofia Children's Hospital, Athens, Greece., Dimakou K; Division of Paediatric Gastroenterology & Hepatology, 1st Department of Paediatrics, National and Kapodistrian University of Athens, Agia Sofia Children's Hospital, Athens, Greece., Papadopoulou A; Division of Paediatric Gastroenterology & Hepatology, 1st Department of Paediatrics, National and Kapodistrian University of Athens, Agia Sofia Children's Hospital, Athens, Greece., Vaz FM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Core Facility Metabolomics, Amsterdam UMC, the Netherlands., Vessalas G; Stem Cell Transplant Unit, Agia Sofia Children's Hospital, Athens, Greece., Goorden SMI; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands., Roelofsen J; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands., Zoetekouw A; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands., Nieman MM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands., Dimitriou E; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece., Moraitou M; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece., Peristeri I; Stem Cell Transplant Unit, Agia Sofia Children's Hospital, Athens, Greece., Michelakakis H; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece., van Kuilenburg ABP; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.
Jazyk:	angličtina
Zdroj:	Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Dec 03; Vol. 30, pp. 100829. Date of Electronic Publication: 2021 Dec 03 (Print Publication: 2022).
DOI:	10.1016/j.ymgmr.2021.100829
Abstrakt:	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 transplantation on the biochemical and clinical aspects of the disease. The patient presented at the age of 15 years with severe gastrointestinal symptoms, cachexia, peripheral neuropathy and diffuse leukoencephalopathy. The diagnosis of MNGIE disease was established by the increased levels of thymidine and deoxyuridine in plasma and the complete deficiency of thymidine phosphorylase activity. The novel c.[978dup] (p.Ala327Argfs*?) variant and the previously described variant c.[417 + 1G > A] were identified in TYMP. The donor for the allogeneic hematopoietic stem cell transplantation was her fully compatible sister, a carrier of the disease. The patient had a completely uneventful post- transplant period and satisfactory PB chimerism levels. A marked and rapid decrease in thymidine and deoxyuridine plasma levels and an increase of the thymidine phosphorylase activity to the levels measured in her donor sister was observed and is still present sixteen months post-transplant. Disease symptoms stabilized and some improvement was also observed both in her neurological and gastrointestinal symptoms. Follow up studies will be essential for determining the long term impact of allogeneic hematopoietic stem cell transplantation in our patient. Competing Interests: None. (© 2021 Published by Elsevier Inc.)
Databáze:	MEDLINE
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