Read by QxMD icon Read

Organic acidaemia

Muhittin Celik, Osman Akdeniz, Nezir Ozgun
AIM: Newborns with inborn errors of metabolism can present with hyperammonaemic coma. In this study, we evaluated the effect of peritoneal dialysis on plasma ammonium levels and on the short-term outcome in neonatal patients with urea cycle defects and organic acidaemia. METHODS: Data from infants with hyperammonaemia due to urea cycle defects or organic acidaemia treated with dialysis were collected and retrospectively analysed. The results of patient groups (group I, survived; and group II, died) were compared...
January 22, 2018: Nephrology
A Daly, S Evans, C Ashmore, S Chahal, S Santra, A MacDonald
Children with inherited metabolic disorders (IMD) who are dependent on tube feeding and require a protein restriction are commonly fed by 'modular tube feeds' consisting of several ingredients. A longitudinal, prospective two-phase study, conducted over 18 months assessed the long-term efficacy of a pre-measured protein-free composite feed. This was specifically designed to meet the non-protein nutritional requirements of children (aged over 1 year) with organic acidaemias on low protein enteral feeds and to be used as a supplement with an enteral feeding protein source...
December 2017: Molecular Genetics and Metabolism Reports
E Kose, P Kuyum, B Aksoy, J Häberle, N Arslan, Y Ozturk
WHAT IS KNOWN AND OBJECTIVE: Carglumic acid is a structural analogue of human N-acetylglutamate, which has become an alternative therapeutic option for hyperammonaemia in organic acidaemias such as isovaleric acidaemia, methylmalonic acidaemia and propionic acidaemia, and it has been suggested in other urea cycle disorders such as ornithine transcarbamylase deficiency and carbamoyl phosphate synthetase 1 deficiency. CASE DESCRIPTION: A male newborn was diagnosed with citrullinemia after serum amino acid analyses revealed markedly elevated citrulline concentration together with homozygous p...
February 2018: Journal of Clinical Pharmacy and Therapeutics
David J Mellor, Ngaio J Beausoleil
Horses engaged in strenuous exercise display physiological responses that approach the upper functional limits of key organ systems, in particular their cardiorespiratory systems. Maximum athletic performance is therefore vulnerable to factors that diminish these functional capacities, and such impairment might also lead to horses experiencing unpleasant respiratory sensations, i.e., breathlessness. The aim of this review is to use existing literature on equine cardiorespiratory physiology and athletic performance to evaluate the potential for various types of breathlessness to occur in exercising horses...
May 26, 2017: Animals: An Open Access Journal From MDPI
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...
June 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...
February 15, 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
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"