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Röeben, B.* ; Marquetand, J.* ; Bender, B.* ; Billing, H.* ; Haack, T.B. ; Sanchez-Albisua, I.* ; Schöls, L.* ; Blom, H.J.* ; Synofzik, M.*

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function.

Orphanet J. Rare Dis. 12:135 (2017)

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, autosomal-recessive mitochondrial disorder caused by TYMP mutations presenting with a multisystemic, often lethal syndrome of progressive leukoencephalopathy, ophthalmoparesis, demyelinating neuropathy, cachexia and gastrointestinal dysmotility. Hemodialysis (HMD) has been suggested as a treatment to reduce accumulation of thymidine and deoxyuridine. However, all studies so far have failed to measure the toxic metabolites in cerebrospinal fluid (CSF), which is the crucial compartment for CNS damage. Our study is the first prospective, longitudinal investigation, exploiting detailed serial testing of predefined clinical and molecular outcome parameters (including serial CSF assessments) in a 29-year-old MNGIE patient undergoing 1 year of extensive HMD. We demonstrate that HMD only transiently restores increased serum and urine levels of thymidine and deoxyuridine, but fails to reduce CSF levels of the toxic metabolites and is ineffective to influence neurological function. These findings have direct important implications for clinical practice: They prevent a burdensome, long-term invasive, but ultimately probably ineffective procedure in future MNGIE patients.

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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Haemodialysis ; Mitochondriopathy ; Mngie ; Thymidine Phosphorylases; Mitochondrial Neurogastrointestinal Encephalomyopathy; Transplantation; Dialysis; Disorder

ISSN (print) / ISBN 1750-1172

e-ISSN 1750-1172

Journal Orphanet Journal of Rare Diseases : OJRD

Quellenangaben Volume: 12, Issue: 1, Article Number: 135

Publisher BioMed Central

Publishing Place London

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Human Genetics (IHG)