Screening Newborns for Multiple Organic Acidurias in Dried Filter Paper Urine Samples: Method Development

Tuchman, Mendel; McCann, Mark; Johnson, Paula E; Lemieux, Bernard

doi:10.1203/00006450-199110000-00005

Cited by 34 publications

(5 citation statements)

References 22 publications

(13 reference statements)

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“…For the above reasons, we have used urine filter paper for the chemical diagnosis in our present neonatal mass screening as Tuchman et al used for screening newborns for multiple organic acidurias in 1991 (19). We have made a comparison of the results of GC/MS analysis using urine filter paper with those using blood filter paper.…”

Section: A Use Of Urine Filter Paper and Its Advantagesmentioning

confidence: 99%

A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry—rapid, practical, and simultaneous urinary metabolites analysis

Matsumoto

Kuhara

1996

Mass Spectrom. Rev.

136

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Section: A Use Of Urine Filter Paper and Its Advantagesmentioning

confidence: 99%

A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry—rapid, practical, and simultaneous urinary metabolites analysis

Matsumoto

Kuhara

1996

Mass Spectrom. Rev.

136

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“…Organic acid testing may be modified by adding a selective ion monitoring mass spectrometry screen for specific compounds that performs a specific search for several organic acids markers, 5 including 4-hydroxybutyrate. Standard organic acid assays commonly miss the increased excretion of 4-OH-butyric acid.…”

mentioning

confidence: 99%

Clinical spectrum of succinic semialdehyde dehydrogenase deficiency

Pearl¹,

Gibson²,

Acosta³

et al. 2003

Neurology

190

158

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Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder affecting CNS gamma-aminobutyric acid (GABA) degradation. SSADH, in conjunction with GABA transaminase, converts GABA to succinate. In the absence of SSADH, GABA is converted to 4-OH-butyrate. The presence of 4-OH-butyrate, a highly volatile compound, may be undetected on routine organic acid analysis. Urine organic acid testing was modified at the authors' institution in 1999 to screen for the excretion of 4-OH-butyrate by selective ion monitoring gas chromatography-mass spectrometry in addition to total ion chromatography. Since then, five patients with 4-hydroxybutyric aciduria have been identified. The authors add the clinical, neuroimaging, and EEG findings from a new cohort of patients to 51 patients reported in the literature with clinical details. Ages ranged from 1 to 21 years at diagnosis. Clinical findings include mild-moderate mental retardation, disproportionate language dysfunction, hypotonia, hyporeflexia, autistic behaviors, seizures, and hallucinations. Brain MRI performed in five patients at the authors' institution revealed symmetric increased T2 signal in the globus pallidi. SSADH deficiency is an under-recognized, potentially manageable neurometabolic disorder. Urine organic acid analysis should include a sensitive method for the detection of 4-hydroxybutyrate and should be obtained from patients with mental retardation or neuropsychiatric disturbance of unknown etiology.

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“…Previous studies have validated the usefulness of high throughput GC-MS/MS for urine steroid pro ling of more than 30 metabolites; however, this was done in liquid urine 5 . Conversely, measurement of organic acids in spot dried urine samples using lter paper has already been well-validated as a technique for screening neonates for metabolic disorders 16,59,60 and for screening for neuroblastoma 61 with similar recoveries obtained from liquid and dried urine. Dried urine has also been used to measure other urine analytes of interest, such as sodium and potassium, with similarly high levels of stability 62 .…”

Section: Discussionmentioning

confidence: 99%

Reliability of A Dried Urine Test for Comprehensive Assessment of Urine Hormones and Metabolites

Newman¹,

Curran²

2020

Preprint

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BackgroundMass spectrometry allows for analysis of multiple hormone and organic acid metabolites from small urine volumes; however, to assess the full extent of daily hormone production, 24-hour urine collections are usually required. The aims of this study were, first, to confirm that mass spectrometric analysis of an array of hormones and organic acids would yield similar results in both liquid and dried urine, and, second, to determine if collection of four dried spot urine samples could be substituted for a 24-hour collection when measuring reproductive hormones. MethodsTwo study populations were included in this prospective observational study. Twenty individuals collected both a spot liquid urine and dried urine on filter paper to analyze eight organic acids. A second group of 26 individuals collected both a 24-hour urine and four dried spot urines during waking hours throughout the same day for evaluation of 17 reproductive hormones and metabolites; data from 18 of these individuals were available to compare liquid versus dried urine results. Dried urine was extracted, hydrolyzed, and derivatized before analysis by mass spectrometry; all analytes from dried urine were normalized to urine creatinine. ResultsReproductive hormone results from dried and liquid urine were in excellent agreement with intraclass correlation coefficients (ICCs) greater than 0.90; comparison of dried to liquid urine for organic acids showed good to excellent agreement (ICC range: 0.75 to 0.99). Comparison between the 4-spot urine collection and 24-hour urine collection methods showed excellent agreement (ICC>0.9) for 14 of the 17 urine metabolites and good agreement for the others (ICC 0.78 to 0.85) with no systematic differences between the two methods of collection. ConclusionsThe burden of urine collection can be reduced using collection of four spot dried urines on filter paper without compromising comparability with hormone results from a 24-hour urine collection. A large number of urine analytes can be assessed from the dried urine with similar results to those from liquid urine. Given the ease of sample handling, this 4-spot dried urine assay would be useful for both clinical assessment of patients and for large epidemiologic studies.

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Screening Newborns for Multiple Organic Acidurias in Dried Filter Paper Urine Samples: Method Development

Cited by 34 publications

References 22 publications

A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry—rapid, practical, and simultaneous urinary metabolites analysis

A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry—rapid, practical, and simultaneous urinary metabolites analysis

Clinical spectrum of succinic semialdehyde dehydrogenase deficiency

Reliability of A Dried Urine Test for Comprehensive Assessment of Urine Hormones and Metabolites

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