These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency.
    Author: DelValle JA, Merinero B, Jiménez A, García MJ, Ugarte M, Omeñaca F, Neustadt G, Quero J.
    Journal: J Inherit Metab Dis; 1982; 5(2):121-4. PubMed ID: 6820422.
    Abstract:
    The case of a patient with neonatal propionic acidaemia is reported. Despite an initially favourable response to the administration of an artificial formula, the patient finally died when 9.5 months old. Protein tolerance never exceeded 1.3 g kg-1 day-1. During the remission periods, when ingesting the formula, 3-hydroxypropionic acid was excreted alone or together with tiglylglycine and/or methylcitrate. In a period of ketoacidosis, in addition to these three metabolites and those of ketoacidosis, elevations of 2-methyl-3-oxovaleric acid, propionylglycine and 2-methyl-3-hydroxybutyric acid were found. A severe deficiency of propionyl-CoA carboxylase in cultured fibroblasts was detected; biotin, when added to the fibroblasts culture media, did not stimulate this enzyme activity. The effectiveness of the administered formula is discussed.
    [Abstract] [Full Text] [Related] [New Search]