Türk Biyokimya Dergisi (Apr 2025)
Exploring inherited vitamin B responsive disorders in the Moroccan population: cutting-edge diagnosis via GC-MS profiling
- Najeh Samira,
- Sabir Es-Said,
- Assiri Imane,
- Hammoud Miloud,
- Lafhal Karima,
- Jakani Maroua,
- Berrachid Abdelaati,
- Choubbane Hanane,
- Baki Zakaria,
- Sbyea Safya,
- Baki Salwa,
- Qorchi Hajar,
- Aallam Mina,
- Kissani Najib,
- Gebrati Lhoucine,
- El Amiri My Ahmed,
- Outzourhit Abdelkader,
- Fdil Naima
Affiliations
- Najeh Samira
- Faculty of Medicine and Pharmacy, Metabolic Platform, Biochemistry Laboratory, Research Center: Childhood, Health and Sustainable Development, Cadi Ayyad University, Marrakesh, Morocco
- Sabir Es-Said
- Faculty of Medicine and Pharmacy, Metabolic Platform, Biochemistry Laboratory, Research Center: Childhood, Health and Sustainable Development, Cadi Ayyad University, Marrakesh, Morocco
- Assiri Imane
- Faculty of Medicine and Pharmacy, Metabolic Platform, Biochemistry Laboratory, Research Center: Childhood, Health and Sustainable Development, Cadi Ayyad University, Marrakesh, Morocco
- Hammoud Miloud
- Faculty of Medicine and Pharmacy, Metabolic Platform, Biochemistry Laboratory, Research Center: Childhood, Health and Sustainable Development, Cadi Ayyad University, Marrakesh, Morocco
- Lafhal Karima
- Faculty of Medicine and Pharmacy, Metabolic Platform, Biochemistry Laboratory, Research Center: Childhood, Health and Sustainable Development, Cadi Ayyad University, Marrakesh, Morocco
- Jakani Maroua
- Faculty of Medicine and Pharmacy, Metabolic Platform, Biochemistry Laboratory, Research Center: Childhood, Health and Sustainable Development, Cadi Ayyad University, Marrakesh, Morocco
- Berrachid Abdelaati
- Faculty of Medicine and Pharmacy, Metabolic Platform, Biochemistry Laboratory, Research Center: Childhood, Health and Sustainable Development, Cadi Ayyad University, Marrakesh, Morocco
- Choubbane Hanane
- Faculty of Science and Technology, Systems Engineering and Applications Laboratory, National School of Applied Sciences, Sustainable Development and Health Research Laboratory, Cadi Ayyad University, Marrakesh, Morocco
- Baki Zakaria
- Faculty of Medicine and Pharmacy, Metabolic Platform, Biochemistry Laboratory, Research Center: Childhood, Health and Sustainable Development, Cadi Ayyad University, Marrakesh, Morocco
- Sbyea Safya
- Faculty of Medicine and Pharmacy, Metabolic Platform, Biochemistry Laboratory, Research Center: Childhood, Health and Sustainable Development, Cadi Ayyad University, Marrakesh, Morocco
- Baki Salwa
- Faculty of Medicine and Pharmacy, Metabolic Platform, Biochemistry Laboratory, Research Center: Childhood, Health and Sustainable Development, Cadi Ayyad University, Marrakesh, Morocco
- Qorchi Hajar
- Neurology Department, University Hospital Mohammed VI, Marrakesh, Morocco
- Aallam Mina
- Neurology Department, University Hospital Mohammed VI, Marrakesh, Morocco
- Kissani Najib
- Neurology Department, University Hospital Mohammed VI, Marrakesh, Morocco
- Gebrati Lhoucine
- Faculty of Medicine and Pharmacy, Metabolic Platform, Biochemistry Laboratory, Research Center: Childhood, Health and Sustainable Development, Cadi Ayyad University, Marrakesh, Morocco
- El Amiri My Ahmed
- Faculty of Medicine and Pharmacy, Metabolic Platform, Biochemistry Laboratory, Research Center: Childhood, Health and Sustainable Development, Cadi Ayyad University, Marrakesh, Morocco
- Outzourhit Abdelkader
- Laboratory of Materials Energy and Environment Faculty of Sciences Semlalia, Marrakesh, Morocco
- Fdil Naima
- Faculty of Medicine and Pharmacy, Metabolic Platform, Biochemistry Laboratory, Research Center: Childhood, Health and Sustainable Development, Cadi Ayyad University, Marrakesh, Morocco
- DOI
- https://doi.org/10.1515/tjb-2025-0081
- Journal volume & issue
-
Vol. 50,
no. 3
pp. 455 – 463
Abstract
B vitamins are a group of eight essential nutrients involved in various biological processes, including energy production and the proper functioning of the nervous system. They play a critical role in certain inherited metabolic diseases (IMDs). Deficiencies in the metabolism of thiamine (B1), biotin (B7), and cobalamin (B12) can lead to serious health issues, including confusion, seizures, respiratory problems, encephalopathy, coma, hearing and vision loss, ataxia, and more. The main objective of our study is to highlight the role of Gas Chromatography-Mass Spectrometry (GC/MS) in detecting vitamin B-responsive IMDs in Moroccan patients.
Keywords
- organic acidurias
- gc-ms
- pyruvate dehydrogenase complex deficiency
- biotinidase deficiency
- methylmalonic aciduria
