Leukocyte propionyl‐CoA carboxylase deficiency in a patient with ketotic hyperglycinaemia

Valle, Juan Carlos del; Merinero, B.; García, Maria José; Ugarte, Magdalena; Omeñaca, F; Neustadt, G.

doi:10.1007/bf02312537

Cited by 2 publications

(2 citation statements)

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“…When ketoacidosis was present, a number of organic acids accumulated, all of which have already been described as present in patients with propionic acidaemia (Sweetman et al, 1978;Duran et al, 1978;Truscott et al, 1979;Przyrembel et al, 1979). This disease was confirmed in our patient when a PCC deficiency was found in both leukocytes (DelValle et al, 1980) and cultured skin fibroblasts. Since another biotin-dependent enzyme activity measured in fibroblasts, namely MCCC, was within the normal levels, the possibility of both an alteration of biotin transport or a deficiency in the holoenzyme synthetase activity can be excluded (Weyler et al, 1977).…”

Section: Discussionsupporting

confidence: 81%

Dietary treatment and biochemical studies on a neonatal case of propionyl‐CoA carboxylase deficiency

Merinero

Jiménez

et al. 1981

J of Inher Metab Disea

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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.

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Section: Discussionsupporting

confidence: 81%

Dietary treatment and biochemical studies on a neonatal case of propionyl‐CoA carboxylase deficiency

Merinero

Jiménez

et al. 1981

J of Inher Metab Disea

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“…Clinical and biochemical details of some of these patients have already been described. [13][14][15][16][17][18] Samples Lymphocytes were isolated from heparinized blood, and skin fibroblasts from patients, parents and controls were cultured by standard procedures. Whole blood and dried blood spots were also obtained as DNA source from controls, patients and families.…”

Section: Subjectsmentioning

confidence: 99%

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

et al. 2000

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Propionic acidaemia (PA) is an autosomal recessive disorder caused by mutations in either of the PCCA or PCCB genes which encode the α and subunits, respectively, of the mitochondrial enzyme propionyl-CoA carboxylase (PCC). In this work we have examined the biochemical findings and clinical outcome of 37 Spanish PA patients in relation to the mutations found in both PCCA and PCCB genes. We have detected 27 early-onset and 10 late-onset cases, showing remarkably similar biochemical features without relation to either the age of onset of the disease or the defective gene they have. Twenty-one of the patients have so far survived and three of them, now adolescents, present normal development. Different biochemical procedures allowed us to identify the defective gene in 9 PCCA deficient and 28 PCCB deficient patients. Nine putative disease-causing mutations accounting for 77.7% of mutant alleles were identified among PCCA deficient patients, each one carrying a unique genotypic combination. Of PCCB mutant alleles 98% were characterised. Four common mutations (ins/del, E168K, 1170insT and A497V) were found in 38/52 mutant chromosomes investigated, whereas the remainder of the alleles harbour 12 other different mutations. By examining the mutations identified both in PCCA and PCCB genes and the clinical evolution of patients, we have found a good correlation between certain mutations which can be considered as null with a severe phenotype, while certain missense mutations tend to be related to the late and mild forms of the disease. Expression studies, particularly of the missense mutations identified are necessary but other genetic and environmental factors probably contribute to the phenotypic variability observed in PA.

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Leukocyte propionyl‐CoA carboxylase deficiency in a patient with ketotic hyperglycinaemia

Cited by 2 publications

References 5 publications

Dietary treatment and biochemical studies on a neonatal case of propionyl‐CoA carboxylase deficiency

Dietary treatment and biochemical studies on a neonatal case of propionyl‐CoA carboxylase deficiency

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

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