Cardiomyopathy in propionic acidaemia

Massoud, Ahmed F.; Leonard, James V.

doi:10.1007/bf01955907

Cited by 82 publications

(52 citation statements)

References 8 publications

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“…Patients who survive suffer from recurrent metabolic instability and can develop multisystemic complications including neurological impairment (Haas et al, 1995;Nyhan et al, 1999), cardiomyopathy (Massoud and Leonard, 1993;Bhan and Brody, 2001;Mardach et al, 2005), and pancreatitis (Kahler et al, 1994). Typical laboratory abnormalities include severe metabolic acidosis, hyperglycinemia, ketosis, and marked hyperammonemia that may require dialysis.…”

Section: Introductionmentioning

confidence: 99%

Adeno-Associated Virus Serotype 8 Gene Transfer Rescues a Neonatal Lethal Murine Model of Propionic Acidemia

et al. 2011

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Section: Introductionmentioning

confidence: 99%

Adeno-Associated Virus Serotype 8 Gene Transfer Rescues a Neonatal Lethal Murine Model of Propionic Acidemia

et al. 2011

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“…End-organ involvement that impacts perioperative care may affect the cardiac, respiratory, and CNS. Cardiomyopathy and sudden cardiac death have been described as complications of several metabolic disorders including PA [13][14][15][16]. Cardiac involvement with car-Anesthesia and Propionic Acidemia J Med Cases.…”

Section: Discussionmentioning

confidence: 99%

“…2015;6(9):420-425 diogenic shock may be the presenting symptom of PA [17]. Cardiac involvement is postulated to be the result of the direct toxic effects of propionic acid and its metabolites or secondary deficiencies of carnitine or selenium [2,15,18]. Acute cardiac decompensation can also occur in association with episodic metabolic decompensation and acidosis.…”

Section: Arcas-bellas Et Al [12]mentioning

confidence: 99%

Anesthetic Care of a Child With Propionic Acidemia

Rafiq

Tobias

2015

J Med Cases

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Propionic acidemia (PA), an autosomal recessive inborn error of metabolism, is one of the most frequent organic acidurias. The primary defect is deficiency of the mitochondrial enzyme, propionyl-CoA carboxylase which plays a key role in the final catabolism of the branched chain amino acids, the end-products of the β-oxidation of fatty acids, and the metabolism of the cholesterol side chains. Derangements in these pathways result in the accumulation of toxic metabolites which result in progressive end-organ dysfunction. Clinical manifestations include episodes of severe metabolic ketoacidosis, intercurrent infection, vomiting, hypotonia, convulsions, developmental delay with central nervous system involvement, gastroesophageal reflux, osteoporosis, pancreatitis, and cardiomyopathy. We present a 14-year-old girl with PA who required anesthetic care for magnetic resonance imaging (MRI) of the thoracolumbar spine. Previous reports of anesthetic care for these patients are reviewed, the end-organ involvement is discussed, and options for anesthetic care are presented.

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“…Endogenous organic acid accumulation can perturb mitochondrial homeostasis by directly inhibiting OXPHOS consequent energy production [CheemaDhadli et al, 1975;Gregersen, 1981;Evangeliou et al, 1985;Massoud and Leonard, 1993;Okun et al, 2002;Baumgartner et al, 2007] or indirectly, via decreased expression of mtDNA of the electron transfer complexes I-IV [Mardach et al, 2005;Schwab et al, 2006;Sperl et al, 2006;de Keyzer et al, 2009]. Further, abnormal mitochondrial structure has also been observed, especially in the skeletal muscle, heart and liver in patients with organic acidurias [Mardach et al, 2005;Schwab et al, 2006;de Keyzer et al, 2009;Wortmann et al, 2009].…”

Section: Further Connections With Inborn Errors Of Metabolismmentioning

confidence: 99%

Mitochondrial Factors and VACTERL Association-Related Congenital Malformations

Siebel

Solomon²

2013

Mol Syndromol

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VACTERL/VATER association is a group of congenital malformations characterized by at least 3 of the following findings: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. To date, no unifying etiology for VACTERL/VATER association has been established, and there is strong evidence for causal heterogeneity. VACTERL/VATER association has many overlapping characteristics with other congenital disorders that involve multiple malformations. In addition to these other conditions, some of which have known molecular causes, certain aspects of VACTERL/VATER association have similarities with the manifestations of disorders caused by mitochondrial dysfunction. Mitochondrial dysfunction can result from a number of distinct causes and can clinically manifest in diverse presentations; accurate diagnosis can be challenging. Case reports of individuals with VACTERL association and confirmed mitochondrial dysfunction allude to the possibility of mitochondrial involvement in the pathogenesis of VACTERL/VATER association. Further, there is biological plausibility involving mitochondrial dysfunction as a possible etiology related to a diverse group of congenital malformations, including those seen in at least a subset of individuals with VACTERL association.

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Cardiomyopathy in propionic acidaemia

Cited by 82 publications

References 8 publications

Adeno-Associated Virus Serotype 8 Gene Transfer Rescues a Neonatal Lethal Murine Model of Propionic Acidemia

Adeno-Associated Virus Serotype 8 Gene Transfer Rescues a Neonatal Lethal Murine Model of Propionic Acidemia

Anesthetic Care of a Child With Propionic Acidemia

Mitochondrial Factors and VACTERL Association-Related Congenital Malformations

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