Exploring inherited vitamin B responsive disorders in the Moroccan population: cutting-edge diagnosis via GC-MS profiling

Objectives: 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. Case presentation: Urine samples from symptomatic individuals suspected of having intermediate metabolism deficiencies, excluding aminoacidopathies, were analyzed using GC/MS. Three cases of IMDs were identified: pyruvate dehydrogenase complex deficiency, biotinidase deficiency, and methylmalonic aciduria. Each patient presented with neurological symptoms and metabolic abnormalities. Following targeted vitamin supplementation (B1, B7, or B12), significant clinical improvement was observed, with resolution of neurological manifestations and normalization of brain CT findings. Conclusions: Urinary metabolite screening using GC/MS in patients with neurological and other symptoms indicative of IMDs can facilitate practical, reliable diagnosis and accessible management. GC/MS analysis is a highly sensitive, rapid, and precise technique for quantifying a wide range of metabolites in human urine. We recommend considering such analysis as a routine test for specific symptoms in the context of personalized and functional medicine practice.