Literature DB >> 6796762

Propionic acidaemia presenting with pancytopaenia in infancy.

L Sweetman, W L Nyhan, J Cravens, Y Zomer, D C Plunket.   

Abstract

A 2-month-old infant presented with vomiting, lethargy and pancytopaenia. She was found to have propionic acidaemia, and the activity of propionyl-CoA carboxylase in cultured fibroblasts was defective (McKusick 23200). Abnormal amounts of glycine, 3-hydroxypropionate, methylcitrate, tiglyglycine, propionylglycine, 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate, 3-oxovalerate and 3-hydroxyvalerate were found in body fluids. It appears that the organic acidaemia leads to an inhibition in the maturation of cells in the bone marrow.

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Year:  1980        PMID： 6796762     DOI： 10.1007/BF01801721

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


  15 in total

1.  Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I.

Authors:  B CHILDS; W L NYHAN; M BORDEN; L BARD; R E COOKE
Journal:  Pediatrics       Date:  1961-04       Impact factor: 7.124

2.  Biotin-responsive propionicacidaemia.

Authors:  N D Barnes; D Hull; L Balgobin; D Gompertz
Journal:  Lancet       Date:  1970-08-01       Impact factor: 79.321

3.  Propionicacidemia (ketotic hyperglycinemia): dietary treatment resulting in normal growth and development.

Authors:  I K Brandt; Y E Hsia; D H Clement; S A Provence
Journal:  Pediatrics       Date:  1974-03       Impact factor: 7.124

4.  Response to dietary therapy in B 12 unresponsive methylmalonic acidemia.

Authors:  W L Nyhan; N Fawcett; T Ando; O M Rennert; R L Julius
Journal:  Pediatrics       Date:  1973-03       Impact factor: 7.124

5.  Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia".

Authors:  Y E Hsia; K J Scully; L E Rosenberg
Journal:  J Clin Invest       Date:  1971-01       Impact factor: 14.808

6.  Propionicacidemia, a new inborn error of metabolism.

Authors:  F A Hommes; J R Kuipers; J D Elema; J F Jansen; J H Jonxis
Journal:  Pediatr Res       Date:  1968-11       Impact factor: 3.756

7.  Biotin-responsive propionic acidemia presenting as the rumination syndrome.

Authors:  R E Hillman; J P Keating; J C Williams
Journal:  J Pediatr       Date:  1978-03       Impact factor: 4.406

8.  An inborn error of short-chain fatty acid metabolism. The odor-of-sweaty-feet syndrome.

Authors:  J B Sidbury; E K Smith; W Harlan
Journal:  J Pediatr       Date:  1967-01       Impact factor: 4.406

9.  Heterozygote expression in propionyl coenzyme A carboxylase deficiency. Differences between major complementation groups.

Authors:  B Wolf; L E Rosenberg
Journal:  J Clin Invest       Date:  1978-11       Impact factor: 14.808

10.  The variability of metabolite excretion in propionicacidaemia.

Authors:  M Duran; D Gompertz; L Bruinvis; D Ketting; S K Wadman
Journal:  Clin Chim Acta       Date:  1978-01-02       Impact factor: 3.786
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  3 in total

1.  Clinical outcome and long-term management of 17 patients with propionic acidaemia.

Authors:  S B van der Meer; F Poggi; M Spada; J P Bonnefont; H Ogier; P Hubert; E Depondt; D Rapoport; D Rabier; C Charpentier; P Parvy; J Bardet; P Kamoun; J M Saudubray
Journal:  Eur J Pediatr       Date:  1996-03       Impact factor: 3.183

2.  Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.

Authors:  Patrick Forny; Friederike Hörster; Diana Ballhausen; Anupam Chakrapani; Kimberly A Chapman; Carlo Dionisi-Vici; Marjorie Dixon; Sarah C Grünert; Stephanie Grunewald; Goknur Haliloglu; Michel Hochuli; Tomas Honzik; Daniela Karall; Diego Martinelli; Femke Molema; Jörn Oliver Sass; Sabine Scholl-Bürgi; Galit Tal; Monique Williams; Martina Huemer; Matthias R Baumgartner
Journal:  J Inherit Metab Dis       Date:  2021-03-09       Impact factor: 4.750

3.  Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.

Authors:  Sarah C Grünert; Stephanie Müllerleile; Linda De Silva; Michael Barth; Melanie Walter; Kerstin Walter; Thomas Meissner; Martin Lindner; Regina Ensenauer; René Santer; Olaf A Bodamer; Matthias R Baumgartner; Michaela Brunner-Krainz; Daniela Karall; Claudia Haase; Ina Knerr; Thorsten Marquardt; Julia B Hennermann; Robert Steinfeld; Skadi Beblo; Hans-Georg Koch; Vassiliki Konstantopoulou; Sabine Scholl-Bürgi; Agnes van Teeffelen-Heithoff; Terttu Suormala; Wolfgang Sperl; Jan P Kraus; Andrea Superti-Furga; Karl Otfried Schwab; Jörn Oliver Sass
Journal:  Orphanet J Rare Dis       Date:  2013-01-10       Impact factor: 4.123
  3 in total

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