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Chapter 5.3 - Chapter

from 5 - Hereditary and Genetic Causes of Stroke

Published online by Cambridge University Press:  06 October 2022

Anita Arsovska
Edited by
Derya Uluduz
Anita Arsovska
Affiliation:
University of Ss Cyril and Methodius
Derya Uluduz
Affiliation:
Istanbul Üniversitesi
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Summary

Organic acidurias (OAs) belong to the group of inborn errors of metabolism (IEM) caused by enzymatic or transport proteins defects in the metabolic pathways of the amino acids, lipids or carbohydrates, having as consequence an energetic failure due to the insufficient “fuel” for the cycle of Krebs and the accumulation of intermediate metabolites with a deleterious effect on different organs, including the nervous system. Diagnosis is based on detection of intermediate metabolites in body fluids, on genetic analysis and measurement of the enzymatic activity in cultured fibroblasts. Strokes related to OAs belong to metabolic stroke category for glutaric, isovaleric, methylmalonic (MMA) and propionic acidurias (PA) and is related to clot formation in the dilated cardiac chambers and to infections favored by neutropenia, in Barth syndrome. Basal ganglia are frequently affected, leading to various types of movement disorders. Both ischemic and hemorrhagic strokes may occur. Early diagnosis, prompt initiation of specific diets, adequate treatment of acute decompensations and chronic monitoring of the patients can reduce the mortality and disability

Keywords

metabolic strokeglutaric aciduriacytotoxic edemamethylmalonic aciduriapropionic aciduriametabolic acidosis
Type
Chapter
Information
Rare Causes of Stroke
A Handbook
 , pp. 271 - 280
Publisher: Cambridge University Press
Print publication year: 2022

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References

Villani, GR, Gallo, G, Scolamiero, E, Salvatore, F, Ruoppolo, M. Classical organic acidurias: Diagnosis and pathogenesis. Clin Exp Med. 2017;17(3): 305–323.Google Scholar
Manoli, I, Venditti, CP. Disorders of branched chain amino acid metabolism. Transl Sci Rare Dis. 2016;1(2): 91–110.Google ScholarPubMed
Clarke, SL, Bowron, A, Gonzalez, IL, et al. Barth syndrome. Orphanet J Rare Dis. 2013;8: 23.CrossRefGoogle ScholarPubMed
Kolker, S, Christensen, E, Leonard, JV, et al. Diagnosis and management of glutaric aciduria type I–revised recommendations. J Inherit Metab Dis. 2011;34(3): 677–694.CrossRefGoogle ScholarPubMed
Hoffmann, GF, Trefz, FK, Barth, PG, et al. Macrocephaly: an important indication for organic acid analysis. J Inherit Metab Dis. 1991;14(3): 329–332.CrossRefGoogle ScholarPubMed
Zinnanti, WJ, Lazovic, J, Housman, C, et al. Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I. Acta Neuropathol Commun. 2014;2: 13.CrossRefGoogle ScholarPubMed
Nishino, H, Czurko, A, Fukuda, A, et al. Pathophysiological process after transient ischemia of the middle cerebral artery in the rat. Brain Res Bull. 1994;35(1): 51–56.CrossRefGoogle ScholarPubMed
Isasi, E, Barbeito, L, Olivera-Bravo, S. Increased blood-brain barrier permeability and alterations in perivascular astrocytes and pericytes induced by intracisternal glutaric acid. Fluids Barriers CNS. 2014;11: 15.CrossRefGoogle ScholarPubMed
Keyfi, F, Talebi, S, Varasteh, AR. Methylmalonic acidemia diagnosis by laboratory methods. Rep Biochem Mol Biol. 2016;5(1): 1–14.Google ScholarPubMed

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  • Chapter
  • Edited by Derya Uluduz, Istanbul Üniversitesi
  • Anita Arsovska
  • Book: Rare Causes of Stroke
  • Online publication: 06 October 2022
  • Chapter DOI: https://doi.org/10.1017/9781108902793.046
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  • Chapter
  • Edited by Derya Uluduz, Istanbul Üniversitesi
  • Anita Arsovska
  • Book: Rare Causes of Stroke
  • Online publication: 06 October 2022
  • Chapter DOI: https://doi.org/10.1017/9781108902793.046
Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

  • Chapter
  • Edited by Derya Uluduz, Istanbul Üniversitesi
  • Anita Arsovska
  • Book: Rare Causes of Stroke
  • Online publication: 06 October 2022
  • Chapter DOI: https://doi.org/10.1017/9781108902793.046
Available formats
×