Simplified chromatographic screening test for the diagnosis of some inborn errors of metabolism

Stuber, A

doi:10.1016/0009-8981(69)90316-7

Cited by 7 publications

(1 citation statement)

References 7 publications

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“…A simplified paper chromatographic method was described for mass screening of blood and urine samples of newborn infants for the detection of inborn errors of metabolism (424) Inorganic Ions. Thin-layer chromatography was the most widely reported technique for the separation of inorganic cations, anions, and metal complexes.…”

Section: Vitaminsmentioning

confidence: 99%

Chromatography

Zweig¹,

Moore²,

Sherma³

1970

Anal. Chem.

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Section: Vitaminsmentioning

confidence: 99%

Chromatography

Zweig¹,

Moore²,

Sherma³

1970

Anal. Chem.

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Genetic Screening

Levy

1973

Advances in Human Genetics

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Routine Thin-Layer-Chromatography in 25000 newborn infants

Sch�n

Thalhammer

1971

Z. Kinder-Heilk.

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A simple Thin-Layer-Chromatography (TLC) method for assay of hyperaminoacidemias is described. In principle dried blood spots as used in Guthrie tests are fixed on glass strips by double sticky tapes. The glass strips are further treated according to CMley, but with slightly modelled elution and a solvent according to ~Bremcr. Due to the relatively little work involved the metlmd appears statable for mass-screening. Thus, TLC was incorporated into the Austrian screening program for inborn errors of metabolism with reasonably little additional work. The findings of the first 25000 investigations in newborns are compared with those of the Guthrie-tests for Phenylalanine, Tyrosine, Leueine, Methionine and Histidine. A good correlation of both methods is found for the amino acids PhenylManine, Tyrosine and Leucine, a suNcient one for ~ethionine and none for Histidine. TLC covers a wider amino acid spectrum than the Guthrie tests available today, but the range of findings is wider. This might mean an increased number of control investigations. The rarity of inborn errors of metabolism not detectable with Guthrie tests but recognized with TLC and the high cost of plates render the economic feasibility of the method in mass-screening questionable. As a second method in addition to the Guthrie test TLC has proved useful to us already. Test --Inborn Errors of Metabolism.Zusammen/assung. Es wird eine einfache DC-Methode zmn Nachweis yon Hyperaminoacid/imien vorgestellt, die wegen ihres geringen Arbeitsaufwandes flit gassenuntersuehungen geeignet erseheint. Die DC konnte dadurch mit vertretbarer Mehrarbeit in das 0sterreichisehe Programm zur Friiherfassung angeborener Stoffwechselanomalien aufgenommen werden. Die Ergebnisse der ersten 25000 Untersuchungen werden mit denen des Guthrie-Testes verglichen. Dabei finder sich gute l~bereinstimmung beider Methoden Nr die Aminosguren PhenylManin, Tyrosin und Leucin, ausreiehende fiir Methionin und keine verwertbare f/it Histidin. Die DC erfM]t ein breiteres Aminos~urespektrum als der Guthrie-Test, die Schwankungsbreite der Aussage ist abet gr6Ber, wodurch eine gr6Bere Zahl yon Kontrolluntersuchungen anfallen wiirde. Die Seltenheit der dutch DC zus~tzlich erfagbaren Stoffwechselst6rungen und die hohen MateriMkosten stellen die gentabilit/it der Methode bei l~{assenanwendung in Frage. A]s gweitmethode neben Guthrie-Test ha~ sieh uns DO bere/ts als n/itz~ich erwiesen. 16 Z, Kinderheilk., Bd. 111

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Simplified chromatographic screening test for the diagnosis of some inborn errors of metabolism

Cited by 7 publications

References 7 publications

Chromatography

Chromatography

Genetic Screening

Routine Thin-Layer-Chromatography in 25000 newborn infants

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