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Dietary treatment and biochemical studies on a neonatal case of propionyl‐CoA carboxylase deficiency
Author(s) -
Del Valle J. A.,
Merinero B.,
Jiménez A.,
García M. J.,
Ugarte M.,
Omeñaca F.,
Neustadt G.,
Quero J.
Publication year - 1982
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800005
Subject(s) - propionic acidemia , ketoacidosis , pyruvate carboxylase , medicine , endocrinology , enzyme , acetyl coa carboxylase , biochemistry , chemistry , type 1 diabetes , diabetes mellitus
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.