Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement

Neurology

Volumn 81, Issue 14, 2013, Pages 1269-1271

  Bax, Bridget E ^a   Bain, Murray D ^a   Scarpelli, Mauro ^b   Filosto, Massimiliano ^c   Tonin, Paola ^b   Moran, Nicholas ^d  

^a ST GEORGE S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF VERONA   (Italy)

^c SPEDALI CIVILI   (Italy)

^d KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOSTEROID; CYCLOPHOSPHAMIDE; IMMUNOGLOBULIN; RECOMBINANT ESCHERICHIA COLI THYMIDINE PHOSPHORYLASE; THYMIDINE PHOSPHORYLASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; COMPASSIONATE USE; COUGHING; DRUG DOSE ESCALATION; ENZYME REPLACEMENT; ERYTHEMA; HUMAN; MNGIE SYNDROME; POLYNEUROPATHY; PRIORITY JOURNAL; BLOOD AUTOTRANSFUSION; ENZYMOLOGY; ESCHERICHIA COLI; INTESTINAL PSEUDO-OBSTRUCTION; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; PROCEDURES; TREATMENT OUTCOME; INTESTINE PSEUDOOBSTRUCTION; METHODOLOGY; MITOCHONDRIAL ENCEPHALOMYOPATHY;

ADULT; BLOOD TRANSFUSION, AUTOLOGOUS; ESCHERICHIA COLI; HUMANS; INTESTINAL PSEUDO-OBSTRUCTION; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; THYMIDINE PHOSPHORYLASE; TREATMENT OUTCOME;

EID: 84888316673     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182a6cb4b     Document Type: Article

References (7)

1. Nishino I, Spinazzola A, Papadimitriou A, et al. Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 2000;47:792-800. (Pubitemid 30390200)
2. Hirano M, Garone C, Quinzii CM. CoQ10 deficiencies and MNGIE: Two treatable mitochondrial disorders. Biochim Biophys Acta 2012;1820:625-631.
3. Filosto M, Scarpelli M, Tonin P, et al. Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. J Neurol 2012;259:2699-2706.
4. Halter J, Schüpbach WM, Casali C, et al. Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): A consensus conference proposal for a standardized approach. Bone Marrow Transplant 2011;46:330-337.
5. Moran NF, Bain MD, Muqit M, Bax BE. Carrier erythrocyte entrapped thymidine phosphorylase therapy in MNGIE. Neurology 2008;71:686-688.
6. Godfrin Y, Bax BE. Enzyme bioreactors as drugs. Drugs Future 2012;37:263-272.
7. Filosto M, Scarpelli M, Tonin P, et al. Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. J Inherit Metab Dis 2011;34:1199-1203.