Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: An Indian experience

Hampe, Mahesh H; Panaskar, Shrimant N.; Yadav, Ashwini A; Ingale, Pramod

doi:10.1016/j.clinbiochem.2016.10.015

Cited by 26 publications

(17 citation statements)

References 22 publications

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“…While most IEM tests are designed for blood or dried blood spots, many health institutions also perform urine tests using targeted assays that employ liquid or gas chromatography coupled with tandem mass spectrometry [41,42]. In a recent study, Kennedy et al [43] identified (but did not quantify) over 1200 molecules from among 100 clinical urine samples from children (average age of 4.3 years).…”

Section: Urinary Metabolites Associated With Iemsmentioning

confidence: 99%

The Urinary Metabolome of Healthy Newborns

et al. 2020

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The knowledge of normal metabolite values for neonates is key to establishing robust cut-off values to diagnose diseases, to predict the occurrence of new diseases, to monitor a neonate's metabolism, or to assess their general health status. For full term-newborns, many reference biochemical values are available for blood, serum, plasma and cerebrospinal fluid. However, there is a surprising lack of information about normal urine concentration values for a large number of important metabolites in neonates. In the present work, we used targeted tandem mass spectrometry (MS/MS)-based metabolomic assays to identify and quantify 136 metabolites of biomedical interest in the urine from 48 healthy, full-term term neonates, collected in the first 24 h of life. In addition to this experimental study, we performed a literature review (covering the past eight years and over 500 papers) to update the references values in the Human Metabolome Database/Urine Metabolome Database (HMDB/UMDB). Notably, 86 of the experimentally measured urinary metabolites are being reported in neonates/infants for the first time and another 20 metabolites are being reported in human urine for the first time ever. Sex differences were found for 15 metabolites. The literature review allowed us to identify another 78 urinary metabolites with concentration data. As a result, reference concentration values and ranges for 378 neonatal urinary metabolites are now publicly accessible via the HMDB.

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Section: Urinary Metabolites Associated With Iemsmentioning

confidence: 99%

The Urinary Metabolome of Healthy Newborns

et al. 2020

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“…As a global approach that can measure all or a large number of cellular metabolites, metabolomics is distinctively positioned to provide a unique metabolic readout of patient's physiological or disease state [3]. Mass spectrometry (MS)-based and nuclear magnetic resonance (NMR)-based approaches are now routinely used for newborn screening [4][5][6][7][8], drug screening [9,10], pharmacometabolomics [11][12][13][14][15][16][17][18], bacterial identification [19][20][21], metabolic imaging [22][23][24][25] or gut flora analysis [26][27][28][29].…”

Section: Introductionmentioning

confidence: 99%

Metabolomics technology and bioinformatics for precision medicine

Azad¹,

Shulaev²

2018

Briefings in Bioinformatics

127

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Precision medicine is rapidly emerging as a strategy to tailor medical treatment to a small group or even individual patients based on their genetics, environment and lifestyle. Precision medicine relies heavily on developments in systems biology and omics disciplines, including metabolomics. Combination of metabolomics with sophisticated bioinformatics analysis and mathematical modeling has an extreme power to provide a metabolic snapshot of the patient over the course of disease and treatment or classifying patients into subpopulations and subgroups requiring individual medical treatment. Although a powerful approach, metabolomics have certain limitations in technology and bioinformatics. We will review various aspects of metabolomics technology and bioinformatics, from data generation, bioinformatics analysis, data fusion and mathematical modeling to data management, in the context of precision medicine.

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“…Methylmalonic acidemias was the most frequent IMD among organic acidemias found in Syrian populations, and the most frequent symptoms were apnea or respiratory distress (65•7%) and vomiting (40%) cases 10 . Whereas primary lactic acidemia and organic acidemia were the most frequent disorder, followed by amino acidopathiesin a study in India 11 .…”

Section: Discussionmentioning

confidence: 99%

Prevalence of Clinical Spectrum of Inherited Metabolic Disorders in Infants and Children at a Tertiary Care Hospital in Rawalpindi, Pakistan

Batool

Zaman

Ayub³

et al. 2020

PAFMJ

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Objective: To determine the frequency of a wide range of clinical presentations of inherited metabolic disorders diagnosed in infants and children at a tertiary care hospital in Rawalpindi, Pakistan. Study Design: Cross sectional study Place and Duration of Study: MH Rawalpindi, from June 2015 till June 2016. Material and Methods: 64 children diagnosed with metabolic disorders, reporting to the MH Rawalpindi, were enrolled in the study. History was taken with special reference to family history, consanguineous marriage, sibling’s death and clinical manifestations. Thorough physical examination was done in every patient to find out the clinical signs present. All the data was recorded on a proforma. SPSS-20 version was used to derive the results and p-value of <0.05 was taken as statistically significant. Results: In children with metabolic disorders, gastrointestinal manifestations were more significant 78·1% (p-value 0.022). Neurological signs were present in 60·9% (p-value 0.094) while respiratory manifestations were present in 15·6% children (p-value 0.251). 53·1% were males and 46·9% were females. The positive history of other affected children in family was significant (p-value 0.015), along with hypoglycaemia (p-value 0.001). Conclusion: Pallor, failure to thrive, poor feeding, convulsions, lethargy and hypoglycemia were the most frequent clinical manifestations in children with metabolic disorders.

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Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: An Indian experience

Cited by 26 publications

References 22 publications

The Urinary Metabolome of Healthy Newborns

The Urinary Metabolome of Healthy Newborns

Metabolomics technology and bioinformatics for precision medicine

Prevalence of Clinical Spectrum of Inherited Metabolic Disorders in Infants and Children at a Tertiary Care Hospital in Rawalpindi, Pakistan

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