Urine screening of five-day-old newborns: metabolic profiling of neonatal galactosuria

Shinka, Toshikatsu; Inoue, Yoshito; Peng, H; Zhen-wei, Xia; Ose, Morimasa; Kuhara, Tomiko

doi:10.1016/s0378-4347(99)00320-5

Cited by 9 publications

(4 citation statements)

References 12 publications

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“…Metabolic profiling of infant urine was applied for the diagnosis of organic acidurias and relevant biomarker discovery [34]. Urinary metabolic profiling was also used for screening of 5-day-old newborns for neonatal galactosuria [35]. Nontargeted metabolic profiling by analysis of urine samples collected from infants has been successfully used in the diagnosis of some inborn metabolic disorders such as cystinuria, maple syrup urine disease, adenylosuccinate lyase deficiency and galactosemia [36].…”

Section: Urine As a Biomatrix For Noninvasive Metabolic Profilingmentioning

confidence: 99%

Noninvasive Metabolic Profiling for Painless Diagnosis of Human Diseases and Disorders

Mal¹

2016

Future Sci. OA

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Metabolic profiling provides a powerful diagnostic tool complementary to genomics and proteomics. The pain, discomfort and probable iatrogenic injury associated with invasive or minimally invasive diagnostic methods, render them unsuitable in terms of patient compliance and participation. Metabolic profiling of biomatrices like urine, breath, saliva, sweat and feces, which can be collected in a painless manner, could be used for noninvasive diagnosis. This review article covers the noninvasive metabolic profiling studies that have exhibited diagnostic potential for diseases and disorders. Their potential applications are evident in different forms of cancer, metabolic disorders, infectious diseases, neurodegenerative disorders, rheumatic diseases and pulmonary diseases. Large scale clinical validation of such diagnostic methods is necessary in future.

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Section: Urine As a Biomatrix For Noninvasive Metabolic Profilingmentioning

confidence: 99%

Noninvasive Metabolic Profiling for Painless Diagnosis of Human Diseases and Disorders

Mal¹

2016

Future Sci. OA

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“…One can screen for and make a chemical diagnosis of more than 130 IEMs, including branched chain amino acids (22 etiologies), primary hyperammonemias (8 etiologies), aromatic amino acids (17 etiologies), pyrimidines and purines (9 etiologies) [36][37][38][39][40]. Galactose [2,41], glucose and fructose can also be targets as well as their oxidized and reduced metabolites. Neuroblastoma, 17 primary lactic acidemias, and 5 fatty acid oxidation disorders can now be detected.…”

Section: Simultaneous Screening and Chemical Diagnosis Of More Than 1mentioning

confidence: 99%

Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism

Kuhara

2007

Journal of Chromatography B

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“…Branched-chain amino acids have 20 etiologies; primary hyperammonemias, 8; aromatic amino acids, 15; and pyrimidines (Kuhara, Ohdoi, & Ohse, 2001;Kuhara et al, 2003), and purines (Ohdoi, Nyhan, & Kuhara, 2003), 8. Very sensitive yet specific analyses of the polar compound galactose Shinka et al, 1999) and fructose can also be done. Neuroblastoma, 17 primary lactic acidemias, and 5 fatty acid oxidation disorders, including multiple acyl-CoA dehydrogenase deficiency, can now be detected with the urine metabolome analysis.…”

Section: Metabolome Analysis Of Urine and The Chemical Diagnosismentioning

confidence: 99%

Gas chromatographic–mass spectrometric urinary metabolome analysis to study mutations of inborn errors of metabolism

Kuhara

2004

Mass Spectrometry Reviews

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Urine contains numerous metabolites, and can provide evidence for the screening or molecular diagnosis of many inborn errors of metabolism (IEMs). The metabolomic analysis of urine by the combined use of urease pretreatment, stable-isotope dilution, and capillary gas chromatography/mass spectrometry offers reliable and quantitative data for the simultaneous screening or molecular diagnosis of more than 130 IEMs. Those IEMs include hyperammonemias and lactic acidemias, and the IEMs of amino acids, pyrimidines, purines, carbohydrates, and others including primary hyperoxalurias, hereditary fructose intolerance, propionic acidemia, and methylmalonic acidemia. Metabolite analysis is comprehensive for mutant genotypes. Enzyme dysfunction-either by the abnormal structure of an enzyme/apoenzyme, the reduced quantity of a normal enzyme/apoenzyme, or the lack of a coenzyme-is involved. Enzyme dysfunction-either by an abnormal regulatory gene, abnormal sub-cellular localization, or by abnormal post-transcriptional or post-translational modification-is included. Mutations-either known or unknown, common or uncommon-are involved. If the urine metabolome approach can accurately observe quantitative abnormality for hundreds of metabolites, reflecting 100 different disease-causing reactions in a body, then it is possible to simultaneously detect different mutant genotypes of far more than tens of thousands.

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Urine screening of five-day-old newborns: metabolic profiling of neonatal galactosuria

Cited by 9 publications

References 12 publications

Noninvasive Metabolic Profiling for Painless Diagnosis of Human Diseases and Disorders

Noninvasive Metabolic Profiling for Painless Diagnosis of Human Diseases and Disorders

Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism

Gas chromatographic–mass spectrometric urinary metabolome analysis to study mutations of inborn errors of metabolism

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