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Diagnostikk av nevrometabolske sykdommer hos voksne

Sist oppdatert: Sist revidert:
Sist revidert av:
  1. Fernández-Eulate G, Carreau C, Benoist JF, Lamari F, Rucheton B, Shor N, Nadjar Y. Diagnostic approach in adult-onset neurometabolic diseases. J Neurol Neurosurg Psychiatry. 2022 Apr;93(4):413-421. PMID: 35140137. PubMed  
  2. Lee KN, Uhlmann W, Hipp L, Quinonez SC. The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation. Mol Genet Metab Rep. 2020 Oct 1;25:100653. doi: 10.1016/j.ymgmr.2020.100653. PMID: 33072517; PMCID: PMC7549142.
  3. Kölker S1, et al. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 2015. pmid:25875215 PubMed  
  4. Deschamps R, Savatovsky J, Vignal C, Fisselier M, Imbard A, Wolf B, Procter M, Gout O. Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy. J Neurol Neurosurg Psychiatry. 2018 Sep;89(9):1009-1010. PMID: 29025919 PubMed  
  5. Braakman HMH, Engelen M, Nicolai J, Willemsen MAAP. Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome. J Neurol Neurosurg Psychiatry. 2018 Jun;89(6):668-670. PMID: 28951496 PubMed  
  6. Stergachis AB, Mogensen KM, Khoury CC, Lin AP, Peake RW, Baker JJ, Barkoudah E, Sahai I, Sweetser DA, Berry GT, Krier JB. A retrospective study of adult patients with noncirrhotic hyperammonemia. J Inherit Metab Dis. 2020 Jul 26. doi: 10.1002/jimd.12292. Epub ahead of print. PMID: 32713002. PubMed  
  7. Kuster A1, Arnoux JB2, Barth M3, Lamireau D4, Houcinat N4, Goizet C4, Doray B5, Gobin S6, Schiff M7, Cano A8, Amsallem D9, Barnerias C10, Chaumette B11, Plaze M11, Slama A12, Ioos C13, Desguerre I10, Lebre AS14, de Lonlay P2, Christa L15; . Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles. J Inherit Metab Dis. 2017. pmid:28924877 PubMed  
  8. Pischik E, Kauppinen R. An update of clinical management of acute intermittent porphyria. Appl Clin Genet. 2015. PMID: 26366103 PubMed  
  • Åse Mygland, spesialist i nevrologi, professor dr med
  • Unn Ljøstad, spesialist i nevrologi, professor PhD