Literature DB >> 1112064

Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies.

H Przyrembel, D Bachmann, I Lombeck, K Becker, U Wendel, S K Wadman, H J Bremer.   

Abstract

Investigation of a psychomotorically retarded girl showed excretion of abnormal amounts of alpha-ketoadipic acid, alpha-hydroxyadipic acid, alpha-aminoadipic acid, 1,2-butenedicarboxylic acid and elevation of plasma alpha-aminoadipic acid levels. The identity of these metabolities was established by various methods. The excretion of alpha-aminoadipic acid correlated to the lysine intake. Degradation studies with cultured fibroblasts indicate a defect in the oxidative decarboxylation of alpha-ketoadipic acid (see Clin. Chim. Acta, 58 (1975) 271.

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Year:  1975        PMID： 1112064     DOI： 10.1016/0009-8981(75)90445-3

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  16 in total

1.  A study on alpha-ketoadipic aciduria by gas chromatographic-mass spectrometry.

Authors:  Zhen-Wei Xia; Yoshito Inoue; Morimasa Ohse; Toshihiro Shinka; Tomiko Kuhara
Journal:  World J Gastroenterol       Date:  2000-10       Impact factor: 5.742

2.  α-Ketoadipic Acid and α-Aminoadipic Acid Cause Disturbance of Glutamatergic Neurotransmission and Induction of Oxidative Stress In Vitro in Brain of Adolescent Rats.

Authors:  Janaína Camacho da Silva; Alexandre Umpierrez Amaral; Cristiane Cecatto; Alessandro Wajner; Kálita Dos Santos Godoy; Rafael Teixeira Ribeiro; Aline de Mello Gonçalves; Ângela Zanatta; Mateus Struecker da Rosa; Samanta Oliveira Loureiro; Carmen Regla Vargas; Guilhian Leipnitz; Diogo Onofre Gomes de Souza; Moacir Wajner
Journal:  Neurotox Res       Date:  2017-04-20       Impact factor: 3.911

3.  alpha-Aminoadipic and alpha-ketoadipic aciduria: detection of a new case by a screening program using two-dimensional thin layer chromatography of amino acids.

Authors:  C Vianey-Liaud; P Divry; J Cotte; G Teyssier
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

4.  New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.

Authors:  Ashlee R Stiles; Leah Venturoni; Grace Mucci; Naser Elbalalesy; Michael Woontner; Stephen Goodman; Jose E Abdenur
Journal:  JIMD Rep       Date:  2015-07-05

5.  A patient with alpha-ketoadipic and alpha-aminoadipic aciduria.

Authors:  M Duran; F A Beemer; S K Wadman; U Wendel; B Janssen
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

6.  DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.

Authors:  Katharina Danhauser; Sven W Sauer; Tobias B Haack; Thomas Wieland; Christian Staufner; Elisabeth Graf; Johannes Zschocke; Tim M Strom; Thorsten Traub; Jürgen G Okun; Thomas Meitinger; Georg F Hoffmann; Holger Prokisch; Stefan Kölker
Journal:  Am J Hum Genet       Date:  2012-11-08       Impact factor: 11.025

7.  Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

Authors:  Jacob Hagen; Heleen te Brinke; Ronald J A Wanders; Alida C Knegt; Esmee Oussoren; A Jeannette M Hoogeboom; George J G Ruijter; Daniel Becker; Karl Otfried Schwab; Ingo Franke; Marinus Duran; Hans R Waterham; Jörn Oliver Sass; Sander M Houten
Journal:  J Inherit Metab Dis       Date:  2015-04-10       Impact factor: 4.982

8.  Identification of N-acetyl-alpha-aminoadipic acid in the urine of a patient with alpha-aminoadipic and alpha-ketoadipic aciduria.

Authors:  T Takechi; T Okada; H Wakiguchi; H Morita; T Kurashige; K Sugahara; H Kodama
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

9.  alpha-Aminoadipic aciduria and persistence of fetal haemoglobin in an oligophrenic child.

Authors:  A J Manders; C G von Oostrom; J M Trijbels; F J Rutten; W J Kleijer
Journal:  Eur J Pediatr       Date:  1981-03       Impact factor: 3.183

10.  Alpha-aminoadipic aciduria: chemical and enzymatic studies.

Authors:  R G Gray; E M O'Neill; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982
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