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Organic acidaemia

A Daly, S Evans, C Ashmore, S Chahal, S Santra, A MacDonald
BACKGROUND: Enteral tube feeding for children with organic acidaemias (OA) is recommended. Protein restriction, providing minimum safe levels of protein intake, is advocated. Standard paediatric tube feeding formulae provide more than the minimum safe protein requirements and are unsuitable in OA without modification. Modified paediatric enteral feeds consist of several modular ingredients. The aim of this prospective longitudinal interventional study was to assess the efficacy of a premeasured novel protein-free module developed for children aged over 12 months compared to conventional practice...
March 10, 2017: Journal of Human Nutrition and Dietetics: the Official Journal of the British Dietetic Association
R Govender, A Mitha, L Mubaiwa
Glutaric aciduria type 1 (GA1) is an organic acidaemia. The objective of this study was to describe the profile of patients diagnosed with GA1 at Inkosi Albert Luthuli Central Hospital, Durban, South Africa from 2007 to 2015. We identified 6 children (4 girls, 2 boys) in a retrospective review. The mean age at diagnosis was 12 months. Clinical findings on presentation were encephalopathic crises (n=4), hypotonia (n=4) and macrocephaly (n=5). Other complications included seizures (n=4), dystonia (n=3) and bulbar dysfunction (n=4)...
February 27, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
Daniel H Moreno, Daniel G Cacione, Jose C C Baptista-Silva
BACKGROUND: An abdominal aortic aneurysm (AAA) is the pathological enlargement of the aorta and can develop in both men and women. Progressive aneurysm enlargement can lead to rupture. The rupture of an AAA is frequently fatal and accounts for the death from haemorrhagic shock of at least 45 people per 100,000 population. The outcome of people with ruptured AAA varies among countries and healthcare systems, with mortality ranging from 53% to 90%. Definitive treatment for ruptured AAA includes open surgery or endovascular repair...
May 13, 2016: Cochrane Database of Systematic Reviews
N T Brannelly, J P Hamilton-Shield, A J Killard
Ammonia is an important component of metabolism and is involved in many physiological processes. During normal physiology, levels of blood ammonia are between 11 and 50 µM. Elevated blood ammonia levels are associated with a variety of pathological conditions such as liver and kidney dysfunction, Reye's syndrome and a variety of inborn errors of metabolism including urea cycle disorders (UCD), organic acidaemias and hyperinsulinism/hyperammonaemia syndrome in which ammonia may reach levels in excess of 1 mM...
November 2016: Critical Reviews in Analytical Chemistry
Anne Daly, S Evans, A Gerrard, S Santra, S Vijay, A MacDonald
BACKGROUND: Detailed nutritional intake data on children with organic acidaemias (OA) (propionic acidaemia (PA), vitamin B12 nonresponsive methylmalonic acidaemia (MMA) and isovaleric acidaemia (IVA)) remains unreported. Aim and subjects: A review of the longitudinal nutritional intake of 14 children with organic acidaemias (PA n = 8; MMA n = 5; IVA n = 1) dependent on enteral tube feeding (≥90% of energy requirements) from a single treatment centre. METHODS: Nutritional intake (energy, protein, precursor-free L-amino acids, vitamins and minerals), anthropometry and nutritional biochemistry data were collated from diagnosis to current age...
2016: JIMD Reports
M Barends, J Pitt, S Morrissy, N Tzanakos, A Boneh
BACKGROUND: In recent years it has become clear that newborn screening (NBS) programmes using tandem mass spectrometry identify "patients" with "classical" inborn errors of metabolism who are asymptomatic. This observation raises issues regarding medicalization of "non-diseases," potentially unnecessary treatment and unnecessary anxiety to parents. AIMS: This study aims to identify possible markers that may assist in predicting the need for treatment of infants with "classical" organic acidaemias (OA) and urea cycle disorders (UCD) diagnosed through NBS...
September 2014: Molecular Genetics and Metabolism
P E Karam, M N Majdalani, R T Daher, A Barhoumi, N Yazbeck
BACKGROUND: Limited data exist so far on cardiovascular disease biomarkers in patients maintained on a protein-restricted diet for inborn errors of protein metabolism. The present study aimed to analyse plasma cholesterol, lipoproteins, triglycerides and total homocysteine in patients with various inborn errors of protein metabolism in comparison with healthy controls. METHODS: A cross-sectional study of cardiovascular disease biomarkers was conducted in a cohort of patients with inborn errors of protein metabolism: nine phenylketonuria, nine urea cycle defect, six branched chain organic acidaemia and two tyrosinaemia type I patients compared to 30 healthy controls...
August 2015: Journal of Human Nutrition and Dietetics: the Official Journal of the British Dietetic Association
Manuela Siekmeyer, Stefanie Petzold-Quinque, Friederike Terpe, Skadi Beblo, Rolf Gebhardt, Franziska Schlensog-Schuster, Wieland Kiess, Werner Siekmeyer
The tricarboxylic acid (TCA) cycle represents the key enzymatic steps in cellular energy metabolism. Once the TCA cycle is impaired in case of inherited metabolic disorders, life-threatening episodes of metabolic decompensation and severe organ failure can arise. We present the case of a 6 ½-year-old girl with propionic acidaemia during an episode of acute life-threatening metabolic decompensation and severe lactic acidosis. Citric acid given as an oral formulation showed the potential to sustain the TCA cycle flux...
2013: Journal of Pediatric Endocrinology & Metabolism: JPEM
Shamima Rahman, Emma J Footitt, Sophia Varadkar, Peter T Clayton
Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), for example in a neonate with pyridoxine-dependent epilepsy. In other IEMs, seizures may be preceded by other major symptoms: by a reduced level of consciousness in a child with an organic acidaemia or urea cycle defect; or by loss of skills, progressive weakness, ataxia, and upper motor signs in a child with a lysosomal storage disorder or peroxisomal leukodystrophy. This review concentrates on those IEMs for which specific treatment is available...
January 2013: Developmental Medicine and Child Neurology
E C Wicks, P M Elliott
Metabolic disorders encompass a heterogeneous group of conditions that commonly affect the heart and contribute adversely to cardiovascular outcomes. As the heart is a metabolically active organ, inborn errors in metabolism (IEMs) often present with cardiac manifestations such as cardiomyopathy, arrhythmia, and valvular dysfunction. More than 40 IEMs are reported to cause cardiomyopathy, including fatty acid oxidation defects, glycogen, lysosomal and perioxisome storage diseases, mitochondrial cardiomyopathies, organic acidaemias, aminoacidopathies and congenital disorders of glycosylation...
September 2012: Herz
Heli Salmi, James V Leonard, Risto Lapatto
AIM: To study whether patients with organic acidaemias have altered glutathione (GSH) levels and thiol redox status. Previously, organic acidaemias have been associated with mitochondrial dysfunction and oxidative stress, suggesting an increased need for antioxidant protection. Furthermore, dietary protein restriction may impair GSH synthesis in these diseases. METHODS: In children with organic acidaemias, cysteine (CYSH) and GSH concentrations in plasma and erythrocytes as well as erythrocyte GSH peroxidase, GSH reductase, GSH S-transferase and glucose-6-phosphate dehydrogenase activities were studied...
November 2012: Acta Paediatrica
Lurdes C Santos, Cândida F Abreu, Sandra M Xerinda, Margarida Tavares, Raquel Lucas, António C Sarmento
BACKGROUND: In view of the close relationship of Portugal with African countries, particularly former Portuguese colonies, the diagnosis of malaria is not a rare thing. When a traveller returns ill from endemic areas, malaria should be the number one suspect. World Health Organization treatment guidelines recommend that adults with severe malaria should be admitted to an intensive care unit (ICU). METHODS: Severe cases of malaria in patients admitted to an ICU were reviewed retrospectively (1990-2011) and identification of variables associated with in-ICU mortality performed...
2012: Malaria Journal
B Li, J Yan, Y Shen, B Li, Z Hu, Z Ma
BACKGROUND: The role of epinephrine combined with lipid emulsion in rescuing cardiovascular collapse induced by local anaesthetic overdose remains unclear. The objective of this study was to explore the effect of epinephrine on delayed lipid-based treatment for bupivacaine-induced cardiac arrest in rats. METHODS: Thirty-two rats were subjected to bupivacaine to induce asystole. Basic life support was performed for 10 min before the rats received saline, epinephrine alone, or 20% lipid emulsion bolus with or without epinephrine pretreatment...
May 2012: British Journal of Anaesthesia
Mona Nasser, Hoda Javaheri, Zbys Fedorowicz, Zaman Noorani
BACKGROUND: Inborn errors of metabolism are genetic conditions which can lead to abnormalities in the synthesis and metabolism of proteins, carbohydrates, or fats. It has been proposed that in some instances carnitine supplementation should be provided to infants with a suspected metabolic disease as an interim measure, particularly whilst awaiting test results. Carnitine supplementation is used in the treatment of primary carnitine deficiency, and also where the deficiency is a secondary complication of several inborn errors of metabolism, such as organic acidaemias and fatty acid oxidation defects in children and adults...
2012: Cochrane Database of Systematic Reviews
Ann-Britt Kiholm Lund, Allan Meldgaard Lund
Isovaleric acidaemia (IVA) is an organic acidemia caused by deficient metabolism of the essential amino acid leucine. We describe the biochemistry, diagnostics, and treatment of IVA, and present the known Danish patients.
April 11, 2011: Ugeskrift for Laeger
V M Roemer, R Walden
OBJECTIVE: Hypoxia and acidosis adversely influence many foetal organ functions. We wanted to know how foetal heart rate (FHR) patterns are mirrored by the fetal acid-base status and if they could serve for predicting the actual pH in umbilical artery (UA) blood. For this purpose we condensed the FHR phenomena into one figure which was to be used as a testing variable and to analyse the performance of the new testing procedure. METHODS: The direct FHR signals of 475 foetuses were stored in a computer and analysed offline (MATLAB)...
June 2010: Zeitschrift Für Geburtshilfe und Neonatologie
Hencher H C Lee, Robert S Y Lee, C K Lai, Y P Yuen, T S Siu, Albert Y W Chan, C W Lam
Isovaleric acidaemia is a rare inherited organic acidaemia associated with a characteristic odour in affected patients. Fewer than 40 causative mutations have been reported to date. We report a case in a Hong Kong Chinese neonate who presented with respiratory distress and acute encephalopathy requiring aggressive resuscitation and treatment. Residual gross motor developmental delay was still observed at the age of 16 months. The child was subsequently found to harbour a known missense mutation (c.A1199G [p...
June 2010: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
Jennifer A Hutcheon, Grace M Egeland, Lucie Morin, Sara J Meltzer, Geir Jacobsen, Robert W Platt
Conditional fetal growth percentiles are percentiles that are calculated taking into account (conditional on) an infant's weight earlier in pregnancy. Although they have been proposed in the statistical literature as a more methodologically appropriate method of measuring fetal growth, their ability to predict adverse perinatal outcomes due to fetal growth restriction is unknown. Using a large, unselected clinical ultrasound database at the Royal Victoria Hospital in Montreal, Canada, we calculated conditional growth percentiles for infants' weight at birth, given their weight at the time of a routine 32- or 33-week ultrasound...
March 2010: Paediatric and Perinatal Epidemiology
Peter A Hampshire, Catherine A Welch, Lawrence A McCrossan, Katharine Francis, David A Harrison
INTRODUCTION: Patients with haematological malignancy admitted to intensive care have a high mortality. Adverse prognostic factors include the number of organ failures, invasive mechanical ventilation and previous bone marrow transplantation. Severity-of-illness scores may underestimate the mortality of critically ill patients with haematological malignancy. This study investigates the relationship between admission characteristics and outcome in patients with haematological malignancies admitted to intensive care units (ICUs) in England, Wales and Northern Ireland, and assesses the performance of three severity-of-illness scores in this population...
2009: Critical Care: the Official Journal of the Critical Care Forum
E Martín-Hernández, P J Lee, A Micciche, S Grunewald, R H Lachmann
BACKGROUND: With improvements in the treatment of children with organic acidaemias (OA), the number surviving to adulthood is increasing. To plan appropriate services for their care it is important to know what their needs are. OBJECTIVE: To describe the clinical and social problems affecting adult patients with OA. PATIENTS AND METHODS: We reviewed the medical records of 15 adult patients diagnosed with OA. Social attainment (housing, schooling and occupation) was analysed...
August 2009: Journal of Inherited Metabolic Disease
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