Use of dried urine spots for screening of inborn errors of bile acid synthesis

Naritaka, Nakayuki; Suzuki, Mitsuyoshi; Takei, Hiroyuki; Chen, Huey‐Ling; Oh, Seek‐hi; Kaewplang, Pinyada; Zhang, Chunhua; Murai, Tsuyoshi; Kurosawa, Takao; Kimura, Akihiko; Shimizu, Toshiaki; Nittono, Hiroshi

doi:10.1111/ped.13852

Cited by 9 publications

(10 citation statements)

References 20 publications

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“…In 1959, DUS was used to detect specific proteins in urine, in order to diagnose diseases such as phenylketonuria [ 7 ]. The use of DUS was then adapted in the following years to search for other proteins and metabolites [ 8 , 9 , 10 , 11 , 12 ].…”

Section: Introductionmentioning

confidence: 99%

Analysis of Cannabinoids and Metabolites in Dried Urine Spots (DUS)

et al. 2021

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Dried urine spots (DUS) represent a potential alternative sample storage for forensic toxicological analysis. The aim of the current study was to develop and validate a liquid chromatographic tandem mass spectrometric procedure for the detection and quantitative determination of cannabinoids and metabolites in DUS. A two-step extraction was performed on DUS and urine samples. An LC-MS/MS system was operated in multiple reaction monitoring and positive polarization mode. The method was checked for sensitivity, specificity, linearity, accuracy, precision, recovery, matrix effects and carryover. The method was applied to 70 urine samples collected from healthy volunteers and drug addicts undergoing withdrawal treatment. The method was successfully developed for DUS. LODs lower than 2.0 ng/mL were obtained for all the monitored substances. All the validation parameters fulfilled the acceptance criteria either for DUS or urine. Among the real samples, 45 cases provided positive results for at least one compound. A good quali-quantitative agreement was obtained between DUS and urine. A good stability of THC, THCCOOH and THCCOOH-gluc was observed after a 24 h storage, in contrast to previously published results. DUS seems to provide a good alternative storage condition for urine that should be checked for the presence of cannabinoids and metabolites.

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Section: Introductionmentioning

confidence: 99%

Analysis of Cannabinoids and Metabolites in Dried Urine Spots (DUS)

et al. 2021

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“…Affected individuals show cholestasis, hepatomegaly, splenomegaly and fat (-soluble vitamins) malabsorption, with or without pruritus. Elevated aminotransferase, hyperbilirubinemia, normal or low serum γ-glutamyltransferase levels as well as BA concentration are the characteristic lab findings in most patients with 3β-HSD deficiency [4,5] …”

Section: Introductionmentioning

confidence: 99%

“…Elevated aminotransferase, hyperbilirubinemia, normal or low serum g-glutamyltransferase levels as well as BA concentration are the characteristic lab findings in most patients with 3b-HSD deficiency. [4,5] Bile acids (Bas) are synthesized from cholesterol through a complex series of reactions. The reactions involve at least 2 pathways (classic and acidic pathways) and 17 different enzymes preferentially expressed in the liver.…”

Section: Introductionmentioning

confidence: 99%

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Prognosis and clinical characteristics of patients with 3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency diagnosed in childhood

Zhang¹,

Yang²,

Wang³

et al. 2022

Medicine

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Objectives:3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency is a rare autosomal recessive condition. So far fewer than 100 cases have been reported and the factors affecting the prognosis are not yet established. The objective of this study is to explore a possible prediction of the outcome of this rare condition.Methods:This review was undertaken and reported in accordance with the preferred reporting items for systematic review and meta-analyses guidelines. Demographics, clinical features, gene data, treatment strategies and prognoses at the last follow-up were extracted and summarized. Patients were divided into 2 groups (alive with native liver and liver transplantation/died). Risk factors for the different clinical features were identified.Results:87 patients that were taken from 7 case reports and 9 case series were included. 38 (38/63, 63.0%) of them presented initial symptoms when they were younger than 1 month and 55 (55/63, 87.3%) less than 1 year. There is a larger proportion of patients younger than 1 month or 1 year at the age of symptom onset in the liver transplantation /died group than patients in alive with the native liver group. The majority of patients (53/62, 85.5%) were diagnosed before the age of 5 year. In all cases, 65 (predicted) pathogenic variants have been identified. Over 70% of patients carried an HSD3B7 variant on exon 1, 4, 5 or 6. 71 (81.6%) were alive at the last follow-up, 16 (18.4%) underwent liver transplantation or died. No significance was found between the group alive with native liver and group liver transplantation /died.Conclusion:Age of onset of the symptoms may be a potential factor that determines the outcome of patients with 3β-HSD deficiency, patients presented with symptoms and signs at an age younger than 1 month or even 1 year may have a worse prognosis. Since there is no difference between clinical outcome and zygosity of gene mutation, we recommend a further study about any possible relationship between mutation site and clinical characteristics or prognosis.

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“…During the last years, several studies determining glycosaminoglycans in urine for diagnosis of mucopolysaccharidosis using DUS have been conducted (Auray-Blais et al 2012 ; Breier et al 2014 ). Further compounds successfully being analysed in DUS include hippuric acid and creatinine (Antunes et al 2013 ) as well as the bile acid profile for detection of inborn errors of bile acid synthesis (Naritaka et al 2019 ). Also, in the scope of drug screening, several approaches using dried urine samples have been developed (Lee et al 2013 ; Michely et al 2017 , 2018 ; Otero-Fernández et al 2013 ).…”

Section: Introductionmentioning

confidence: 99%

Dried urine spots as sampling technique for multi-mycotoxin analysis in human urine

et al. 2021

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A simple and effective approach for HPLC-MS/MS based multi-mycotoxin analysis in human urine samples was developed by application of dried urine spots (DUS) as alternative on-site sampling strategy. The newly developed method enables the detection and quantitation of 14 relevant mycotoxins and mycotoxin metabolites, including citrinin (CIT), dihydrocitrinone (DH-CIT), deoxynivalenol (DON), fumonisin B1 (FB1), T-2 Toxin (T-2), HT-2 Toxin (HT-2), ochratoxin A (OTA), 2′R-ochratoxin A (2′R-OTA), ochratoxin α (OTα), tenuazonic acid and allo-tenuazonic acid (TeA + allo-TeA), zearalenone (ZEN), zearalanone (ZAN), α-zearalenol (α-ZEL), and β-zearalenol (β-ZEL). Besides the spotting procedure, sample preparation includes enzymatic cleavage of glucuronic acid conjugates and stable isotope dilution analysis. Method validation revealed low limits of detection in the range of pg/mL urine and excellent apparent recovery rates for most analytes. Stability investigation of DUS displayed no or only slight decrease of the analyte concentration over a period of 28 days at room temperature. The new method was applied to the analysis of a set of urine samples (n = 91) from a Swedish cohort. The four analytes, DH-CIT, DON, OTA, and TeA + allo-TeA, could be detected and quantified in amounts ranging from 0.06 to 0.97 ng/mL, 3.03 to 136 ng/mL, 0.013 to 0.434 ng/mL and from 0.36 to 47 ng/mL in 38.5%, 70.3%, 68.1%, and 94.5% of the samples, respectively. Additional analysis of these urine samples with an established dilute and shoot (DaS) approach displayed a high consistency of the results obtained with both methods. However, due to higher sensitivity, a larger number of positive samples were observed using the DUS method consequently providing a suitable approach for human biomonitoring of mycotoxin exposure.

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Use of dried urine spots for screening of inborn errors of bile acid synthesis

Cited by 9 publications

References 20 publications

Analysis of Cannabinoids and Metabolites in Dried Urine Spots (DUS)

Analysis of Cannabinoids and Metabolites in Dried Urine Spots (DUS)

Prognosis and clinical characteristics of patients with 3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency diagnosed in childhood

Dried urine spots as sampling technique for multi-mycotoxin analysis in human urine

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