Literature DB >> 22403017

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.

Philippa B Mills1, Emma J Footitt, Serkan Ceyhan, Paula J Waters, Cornelis Jakobs, Peter T Clayton, Eduard A Struys.   

Abstract

Analysis of α-aminoadipic semialdehyde is an important tool in the diagnosis of antiquitin deficiency (pyridoxine-dependent epilepsy). However continuing use of this test has revealed that elevated urinary excretion of α-aminoadipic semialdehyde is not only found in patients with pyridoxine-dependent epilepsy but is also seen in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. This should be taken into account when interpreting the laboratory data. Sulphite was shown to inhibit α-aminoadipic semialdehyde dehydrogenase in vitro.

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Year:  2012        PMID： 22403017     DOI： 10.1007/s10545-012-9466-1

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  21 in total

1.  Nutritional biochemistry: A new redox-cofactor vitamin for mammals.

Authors:  Takaoki Kasahara; Tadafumi Kato
Journal:  Nature       Date:  2003-04-24       Impact factor: 49.962

2.  Highly sensitive and simple liquid chromatographic determination in plasma of B6 vitamers, especially pyridoxal 5'-phosphate.

Authors:  M Kimura; K Kanehira; K Yokoi
Journal:  J Chromatogr A       Date:  1996-01-26       Impact factor: 4.759

3.  L-Pipecolic acid oxidase, a human enzyme essential for the degradation of L-pipecolic acid, is most similar to the monomeric sarcosine oxidases.

Authors:  G Dodt; D G Kim; S A Reimann; B E Reuber; K McCabe; S J Gould; S J Mihalik
Journal:  Biochem J       Date:  2000-02-01       Impact factor: 3.857

Review 4.  Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.

Authors:  Wen-Hann Tan; Florian S Eichler; Sadaf Hoda; Melissa S Lee; Hagit Baris; Catherine A Hanley; P Ellen Grant; Kalpathy S Krishnamoorthy; Vivian E Shih
Journal:  Pediatrics       Date:  2005-09       Impact factor: 7.124

5.  Lysine metabolism in the rat brain: the pipecolic acid-forming pathway.

Authors:  Y E Chang
Journal:  J Neurochem       Date:  1978-02       Impact factor: 5.372

6.  Determination of quinonoid dihydrobiopterin by high-performance liquid chromatography and electrochemical detection.

Authors:  S Heales; K Hyland
Journal:  J Chromatogr       Date:  1989-09-29

7.  Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.

Authors:  Emma J Footitt; Simon J Heales; Philippa B Mills; George F G Allen; Marcus Oppenheim; Peter T Clayton
Journal:  J Inherit Metab Dis       Date:  2011-02-09       Impact factor: 4.982

8.  Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

Authors:  Philippa B Mills; Emma J Footitt; Kevin A Mills; Karin Tuschl; Sarah Aylett; Sophia Varadkar; Cheryl Hemingway; Neil Marlow; Janet Rennie; Peter Baxter; Olivier Dulac; Rima Nabbout; William J Craigen; Bernhard Schmitt; François Feillet; Ernst Christensen; Pascale De Lonlay; Mike G Pike; M Imelda Hughes; Eduard A Struys; Cornelis Jakobs; Sameer M Zuberi; Peter T Clayton
Journal:  Brain       Date:  2010-06-16       Impact factor: 13.501

9.  Free radical and ionic reaction of bisulfite with reduced nicotinamide adenine dinucleotide and its analogues.

Authors:  P T Tuazon; S L Johnson
Journal:  Biochemistry       Date:  1977-03-22       Impact factor: 3.162

10.  Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders.

Authors:  Antonella Peduto; Matthias R Baumgartner; Nanda M Verhoeven; Daniel Rabier; Marco Spada; Marie-Cecile Nassogne; Bwee-Tien T Poll-The; Giovanni Bonetti; Cornelis Jakobs; Jean-Marie Saudubray
Journal:  Mol Genet Metab       Date:  2004-07       Impact factor: 4.797
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  6 in total

1.  Current treatment and management of pyridoxine-dependent epilepsy.

Authors:  Clara D M van Karnebeek; Sravan Jaggumantri
Journal:  Curr Treat Options Neurol       Date:  2015-02       Impact factor: 3.598

Review 2.  Lysine metabolism in mammalian brain: an update on the importance of recent discoveries.

Authors:  André Hallen; Joanne F Jamie; Arthur J L Cooper
Journal:  Amino Acids       Date:  2013-09-17       Impact factor: 3.520

3.  Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.

Authors:  Heather C Mefford; Matthew Zemel; Eileen Geraghty; Joseph Cook; Peter T Clayton; Karl Paul; Barbara Plecko; Philippa B Mills; Douglas R Nordli; Sidney M Gospe
Journal:  Neurology       Date:  2015-07-29       Impact factor: 9.910

4.  Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.

Authors:  Clara D M van Karnebeek; Sylvia Stockler-Ipsiroglu; Sravan Jaggumantri; Birgit Assmann; Peter Baxter; Daniela Buhas; Levinus A Bok; Barbara Cheng; Curtis R Coughlin; Anibh M Das; Alette Giezen; Wahla Al-Hertani; Gloria Ho; Uta Meyer; Philippa Mills; Barbara Plecko; Eduard Struys; Keiko Ueda; Monique Albersen; Nanda Verhoeven; Sidney M Gospe; Renata C Gallagher; Johan K L Van Hove; Hans Hartmann
Journal:  JIMD Rep       Date:  2014-04-19

5.  A case for newborn screening for pyridoxine-dependent epilepsy.

Authors:  Curtis R Coughlin; Laura A Tseng; Clara D M van Karnebeek
Journal:  Cold Spring Harb Mol Case Stud       Date:  2022-03-24

6.  Molybdenum cofactor deficiency: A natural history.

Authors:  Ronen Spiegel; Bernd C Schwahn; Liza Squires; Nils Confer
Journal:  J Inherit Metab Dis       Date:  2022-03-03       Impact factor: 4.750
  6 in total

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