Chronic management and health supervision of individuals with propionic acidemia

Department of Molecular & Human Genetics, Baylor College of Medicine & Texas Children's Hospital, Houston, TX, USA.
Molecular Genetics and Metabolism (Impact Factor: 2.63). 09/2011; 105(1):26-33. DOI: 10.1016/j.ymgme.2011.08.034
Source: PubMed


Propionic acidemia is a relatively rare inborn error of metabolism. Individuals with propionic acidemia often have life-threatening episodes of hyperammonemia and metabolic acidosis, as well as intellectual disability. There are many reports of additional problems, including poor growth, stroke-like episodes of the basal ganglia, seizures, cardiomyopathy, long QTc syndrome, immune defects, pancreatitis and optic neuropathy; however, there is little information about the incidence of these problems in this rare disease. Additionally, there are no clear guidelines for medical or surgical management of individuals with propionic acidemia. Through a comprehensive and systematic review of the current medical literature and survey of expert opinion, we have developed practice guidelines for the chronic management of individuals with propionic acidemia, including dietary therapy, use of medications, laboratory monitoring, chronic health supervision, use of gastrostomy tubes and liver transplantation.

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Available from: Andrea L Gropman, Sep 17, 2014
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    • "Hyperammonaemia is the most common presentation found in 88%, patients [2]. The disease is also characterized by repeated episodes of metabolic acidosis, occasionally seizures , coma, and cerebellar haemorrhages [4]. Hypoglycaemia is a commonly described finding during metabolic decompensations but rarely hyperglycaemia and decreased bone density have also been reported [5]. "
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    ABSTRACT: Objectives. To evaluate the clinical features, physical findings, diagnosis, and laboratory parameters of the patients with propionic acidaemia (PA). Methods. The records of diagnosed cases of propionic acidaemia were reviewed, retrospectively. Results. Twenty-six patients with PA had 133 admissions. The majority (85%) of the patients exhibited clinical manifestations in the 1st week of life. Regarding clinical features, lethargy, fever, poor feeding, vomiting, dehydration, muscular hypotonia, respiratory symptoms, encephalopathy, disturbance of tone and reflexes, and malnutrition were observed in 51-92% admissions. Metabolic crises, respiratory diseases, hyperammonaemia, metabolic acidosis, hypoalbuminaemia, and hypocalcaemia were observed in 30-96% admissions. Pancytopenia, ketonuria, hypoproteinemia, hypoglycaemia, and mildly disturbed liver enzymes were found in 12-41% admissions. Generalised brain oedema was detected in 17% and cerebral atrophy in 25% admissions. Gender-wise odd ratio analysis showed value of 1.9 for lethargy, 1.99 for respiratory diseases, 0.55 for anaemia, and 1.82 for hypocalcaemia. Conclusion. Propionic acidaemia usually presents with wide spectrum of clinical features and disturbances of laboratory parameters in early neonatal age. It is associated with significant complications which deteriorate the patients' quality of life. Perhaps with early diagnosis of the disease and in time intervention, these may be preventable.
    Full-text · Article · Oct 2013 · Journal of nutrition and metabolism
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    • "The management of PA includes primarily, dietary modifications with a low protein diet, along with metronidazole to reduce propionic acid-producing gut species and L-carnitine to promote propionic acid renal clearance. For acute management of acidosis and hyperammonemia, hydration with intravenous fluid containing dextrose and bicarbonate should be initiated promptly with concomitant treatment of precipitating events such as infection [7,8]. Despite the improvement in conservative management, patients with PA are prone to relapsing episodes of metabolic acidosis mandating frequent hospital admissions, and thus, the overall outcome of PA remains disappointing [9]. "
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    ABSTRACT: Propionic acidemia (PA) is a rare autosomal recessive disorder of metabolism caused by deficient activity of the mitochondrial enzyme propionyl-CoA carboxylase. The clinical manifestations are metabolic acidosis, poor feeding, lethargy, vomiting, osteoporosis, neurological dysfunction, pancytopenia, developmental retardation and cardiomyopathy. Liver transplantation has recently been considered as one of the treatment options for patients with PA. This case report describes several anesthetic considerations for patients with PA undergoing liver transplantation. Understanding the patient's status and avoiding events that may precipitate metabolic acidosis are important for anesthetic management of patients with PA. In conclusion, anesthesia should be focused on minimizing the severity of metabolic acidosis with following considerations: (1) maintaining optimal tissue perfusion by avoiding hypotension, (2) preventing hypoglycemia, and (3) providing bicarbonate to compensate for the acidosis.
    Full-text · Article · Sep 2013 · Korean journal of anesthesiology
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    • "Early onset form — vomiting, ataxia, poor feeding, tachypnea, academia, hemiplegia, coma; Late onset form — vomiting, psycholo-gical and mental disabilities Yes Dionisi-Vici et al. (2006); Kanekar and Verbrugge (2011); Pena and Burton (2012); Sutton et al. (2012); van der Meer et al. (1996) Hyperprolinemia type I (HPTI) "
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    ABSTRACT: Western countries are finding health care costs to be a continuously increasing financial burden in excess of previous budgetary allocations. With current health care costs accounting for greater than 15% of the national expenditure, governments are seeking innovative cost-limiting strategies. Medical nutrition therapy (MNT) has proven to be an efficient cost minimising tool whilst concurrently ameliorating the patient's quality of life. In the MNT approach, the incorporation of foodomics technologies in medical foods has a pivotal role regarding quality, safety, nutrition and health. These MNT are defined as specially processed or formulated foods that are used for the dietary management of patients. Amongst the medical foods, low-protein/protein-free (LP/PF) foods have been shown to improve the physical manifestation of metabolic disorders in patients with amino acid or protein-related diseases, such as Phenylketonuria, Tyrosinaemia type I, as well as chronic kidney, and coeliac. Most of the cereal-based LP/PF foods currently marketed are a blend of refined or chemically-based food ingredients with unpalatable, frequently artificial flavours, having excessive sweetness to mask the chemical tasting ingredients (drug-like approach). However, the adoption of an alternative to convention, such as a food-like approach to developing medical foods, is a surprisingly complex process. This is specifically true when the technological aspects of LP/PF foods and, in particular, protein-free cereal foods are considered. The primary processing issues arise when trying to replace gluten in baked cereal products. This presents a significant technological challenge, as gluten is an essential structural network-building protein necessary for formulating high-quality baked goods. Additional considerations such as physical/chemical compatibility, product shelf life, appearance, and palatability determine the success and potential for commercialisation of these therapeutic foods. In this review, the suitable food technology strategies, in particular the foodomics research areas comprising genomics, proteomics, metabolomics and materiomics, for developing LP/PF cereal foods able to overcome the significant limitations of a food-like approach will be addressed.
    Full-text · Article · Mar 2013 · Food Research International
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