MNGIE: management
Evidence-based neurology checklist on mngie: management: Blood tests Plasma deoxythymidine (dThd): this is raised Plasma deoxyuridine (dUrd): this is raised Thymidine phosphorylase: this is low Pancreatic function: this is impaired Lactate: this is high Triglyceride levels: these are increased…
Blood tests
- Plasma deoxythymidine (dThd): this is raised
- Plasma deoxyuridine (dUrd): this is raised
- Thymidine phosphorylase: this is low
- Pancreatic function: this is impaired
- Lactate: this is high
- Triglyceride levels: these are increased
- FGF21
- GDF15
- Genetic analysis: TYMP sequencing
Magnetic resonance imaging (MRI): leukoencephalopathy
Muscle biopsy
Cerebrospinal fluid (CSF) analysis
Other investigations
Treatments
Treatment of complications
Investigational treatments
Acronym
References
- Hirano M, Carelli V, De Giorgio R, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): position paper on diagnosis, prognosis, and treatment by the MNGIE International Network. J Inherit Metab Dis 2021; 44:376-387.
- Garone C, Tadesse S, Hirano M. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain 2011; 134:3326-3332.
- Hirano M, Silvestri G, Blake DM, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994; 44:721-727.
- Ginsberg L, Schapira AHV, Taanman JW. Relapsing neuropathy in an 18-year old woman. Lancet Neurol 2007; 6:192-198.
- Wang H, Ruan G, Yang S, et al. Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: a case report and literature review. Am J Med Genet A 2023 (Online ahead of print).
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