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L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine Cover

L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine

Tremor and Other Hyperkinetic Movements
Volume 14 (2024): Issue 1
By: Roberto Leal-Ortega,  Luis Enrique Parra-Medina and  Lizbeth Josefina González-Herrera  
Open Access
|Mar 2024

Authors

Roberto Leal-Ortega

drleal13@gmail.com

Department of Neurology, Hospital Regional de Alta Especialidad de la Peninsula de Yucatán. Mérida

Luis Enrique Parra-Medina

leparramed@gmail.com

Department of Neurology, Instituto Nacional de Neurología y Neurocirugía “Manuel Velasco Suárez”. Mexico City

Lizbeth Josefina González-Herrera

dimygen@gmail.com

DIMYGEN Laboratorio S.C.P, Mérida, Yucatán; Laboratory of Genetics. Centro de Investigaciones Regionales “Dr. Hideyo Noguchi”, Universidad Autónoma de Yucatán. Mérida
DOI: https://doi.org/10.5334/tohm.854 | Journal eISSN: 2160-8288
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Language: English
Submitted on: Dec 21, 2023
|
Accepted on: Feb 23, 2024
|
Published on: Mar 7, 2024
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
L-2 hydroxyglutaric aciduria,
L2HGDH,
cerebellar ataxia,
tremor,
T2-hyperintensities,
riboflavin,
L-carnitine

© 2024 Roberto Leal-Ortega, Luis Enrique Parra-Medina, Lizbeth Josefina González-Herrera, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.

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