Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels

Przyrembel, Hildegard; Bremer, H. J.; Durán, Marinus; Bruinvis, L.; Ketting, D.; Wadman, S.K.; Baumgartner, R.; Irle, U; Bachmann, C.

doi:10.1007/bf00441893

Cited by 27 publications

(13 citation statements)

References 34 publications

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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.…”

Section: Discussionsupporting

confidence: 83%

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: 83%

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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“…None of our patients was ketotic when samples were taken. 2-Ethylhydracrylic aciduria has also been reported in several defects at distal steps in the S-pathway, including ␤-ketothiolase deficiency (15 ), 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (29 ), propionic acidemia (30 ), and methylmalonic acidemia attributable to deficiency of mutase or its cofactor vitamin B 12 .…”

Section: Discussionmentioning

confidence: 99%

2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine Oxidation

et al. 2005

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Background: Isolated excretion of 2-methylbutyrylglycine (2-MBG) is the hallmark of short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD), a recently identified defect in the proximal pathway of L-isoleucine oxidation. SBCADD might be underdiagnosed because detection and recognition of urine acylglycines is problematic. Excretion of 2-ethylhydracrylic acid (2-EHA), an intermediate formed in the normally minor R-pathway of L-isoleucine oxidation, has not previously been described in SBCADD. Methods: Samples from four patients with 2-MBG excretion were analyzed by gas chromatography-mass spectrometry for urine organic acids, quantification of 2-MBG, and chiral determination of 2-methylbutyric acid. Blood-spot acylcarnitines were measured by electrospray-tandem mass spectrometry. Mutations in the ACADSB gene encoding SBCAD were identified by direct sequencing. Results: SBCADD was confirmed in each patient by demonstration of different ACADSB gene mutations. In

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“…The finding that individuals with propionic acidemia are capable of oxidizing some propionate to COZ, even in the absence of propionyl-CoA carboxylase, led to the elucidation of a second pathway of propionate oxidation [4]. 3-Hydroxypropionate is formed by the successive action of an aeyl-CoA dehydrogenase, followed by enoyl-CoA hydratase.…”

Section: Products Formed From Propionyl-coamentioning

confidence: 99%

Propionyl-L-carnitine: Biochemical significance and possible role in cardiac metabolism

Siliprandi

Menabò

1991

Cardiovasc Drug Ther

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Propionyl-CoA is formed principally during amino acid catabolism. It is then converted chiefly to succinate in a described three-step sequence. Free propionate is formed from propionyl-CoA to a very limited extent, but this anion can participate in a futile cycle of activation and hydrolysis, which can significantly deplete mitochondrial ATP. Free CoA and propionyl-CoA cannot enter or leave mitochondria, but propionyl groups are transferred between separate CoA pools by prior conversion to propionyl-L-carnitine. This reaction requires carnitine and carnitine acetyl transferase, an enzyme abundant in heart tissue. Propionyl-L-carnitine traverses both mitochondrial and cell membranes. Within the cell, this mobility helps to maintain the mitochondrial acyl-CoA/CoA ratio. When this ratio is increased, as in carnitine deficiency states, deleterious consequences ensue, which include deficient metabolism of fatty acids and urea synthesis. From outside the cell (in blood plasma), propionyl-L-carnitine can either be excreted in the urine or redistributed by entering other tissues. This process apparently occurs-without prior hydrolysis and reformation. It is suggested that heart tissue utilizes such exogenous propionyl-L-carnitine to stimulate the tricarboxylic acid cycle (via succinate synthesis) and that this may explain its known protective effect against ischemia.

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Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels

Cited by 27 publications

References 34 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

2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine Oxidation

Propionyl-L-carnitine: Biochemical significance and possible role in cardiac metabolism

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