Literature DB >> 1161338

Alpha-ketoadipic aciduria: a description of a new metabolic error in lysine-tryptophan degradation.

R W Wilson, C M Wilson, S C Gates, J V Higgins.   

Abstract

Our studies of a mentally retarded male with extremely elevated levels of alpha-aminoadipic acid and alpha-ketoadipic acid in his urine have led to the description of a new metabolic defect, alpha-ketoadipic aciduria. Analysis of the urine and serum from the patient's family revealed that the patient (KW) had a mentally and physically normal sister (CW) with the same metabolites elevated, but the rest of the family appeared normal.

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Year:  1975        PMID： 1161338     DOI： 10.1203/00006450-197506000-00002

Source DB:  PubMed          Journal:  Pediatr Res        ISSN： 0031-3998            Impact factor:   3.756


  12 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.  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

3.  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

4.  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

5.  Biochemical and clinical studies of a new case of alpha-aminoadipic aciduria.

Authors:  R E Casey; W A Zaleski; M Philp; I S Mendelson; S L MacKenzie
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

6.  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

7.  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

8.  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

9.  Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.

Authors:  Eric A Sherman; Kevin A Strauss; Silvia Tortorelli; Michael J Bennett; Ina Knerr; D Holmes Morton; Erik G Puffenberger
Journal:  Am J Hum Genet       Date:  2008-11       Impact factor: 11.025

10.  Abnormal alpha-aminoadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhage.

Authors:  M Candito; C Richelme; P Parvy; C Dageville; A Appert; S Bekri; D Rabier; P Chambon; R Mariani; P Kamoun
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982
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