Spectrum of Common and Rare Small Molecule Inborn Errors of Metabolism Diagnosed in a Tertiary Care Center of Maharashtra, India

Abstract

Inborn errors of metabolism (IEM) form a large group of genetic diseases involving defects in genes coding for enzymes, receptors, and cofactors in the metabolic pathways of small and large molecules. The present study is the comprehensive data analysis of the tandem mass spectrometry (TMS) and urine metabolic pattern for the diagnosis of IEMs by gas chromatography and mass spectrometry (GC/MS) in samples received for high-risk IEM screening. MethodsWe conducted a retrospective analysis of children diagnosed with IEMs presenting at the genetic clinic of Mahatma Gandhi Missions (MGM) Medical College, Aurangabad. This article summarizes retrospective data of 40 pediatric cases over a three-year period, diagnosed with small molecule IEM based on the standard testing criteria. ResultsOut of 40, 17 patients (42.5%) were found to have organic acidemias, four (10%) had fatty acid oxidation defects, six (15%) had disorders of aminoacidopathies, seven (17.5%) had mitochondrial diseases, and three (7.5%) had urea cycle defects. One patient in each group (2.5% each) had carbohydrate metabolism defects, purine metabolic defects, and neurotransmitter metabolic defects. ConclusionsThis clinico-etiological profile study has thrown light on the clinical features and natural course of many common and rare IEMs, and it may provide clinicians with a deeper understanding of these conditions, allowing for improved early diagnosis and treatment of these diseases. Because of the high degree of consanguinity and marriages in the same community, common as well as many rare inherited metabolic diseases were diagnosed and novel genetic variants were identified.

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism: Comprehensive Bibliometric Analysis

“…Pilot studies performed in some Middle Eastern countries show that the incidence of inborn metabolic disorders is higher in the region than anywhere else in the world due to consanguinity. This problem is relevant in Bahrain [62], Turkey [21,76], Egypt [67,68], Saudi Arabia [75], Lebanon [45], India [132,134], and Oman [61]. Using authors' and additional keywords in visualization maps confirms a relatively high frequency of the term "consanguinity" (Figure 15A -green cluster, Figure 15B -orange cluster).…”

“…Pilot programs for expanded newborn screening have been implemented in Turkey [76] and Malaysia [133]. Some progress in government support and expansion of neonatal screening programs has recently been achieved in India [134]. Training in genetic counseling has been expanding in Asia and Africa [63].…”

“…In this regard, the issue of storing stains and their storage conditions is being studied. Among the papers on this topic are those from Asia because storage conditions for DBS in hot and humid climates are critical [134,143]. However, the issue of storage conditions for DBS and the development of references and correction factors for metabolites is relevant not only for developing countries due to recent trends in the creation of biobanks and using stored samples for metabolomic studies, including disease prediction and understanding the basic molecular mechanisms of disease development [144][145][146].…”