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organic acidopathy

Phillip L Pearl
Vitamin-dependent epilepsies and multiple metabolic epilepsies are amenable to treatment that markedly improves the disease course. Knowledge of these amenably treatable severe pediatric epilepsies allows for early identification, testing, and treatment. These disorders present with various phenotypes, including early onset epileptic encephalopathy (refractory neonatal seizures, early myoclonic encephalopathy, and early infantile epileptic encephalopathy), infantile spasms, or mixed generalized seizure types in infancy, childhood, or even adolescence and adulthood...
May 2016: Seminars in Pediatric Neurology
William A Zeiger, Lisa R Sun, Thangamadhan Bosemani, Phillip L Pearl, Carl E Stafstrom
BACKGROUND: Succinic semialdehyde dehydrogenase deficiency is a rare neurological disorder resulting from impaired gamma-aminobutyric acid metabolism. The syndrome typically presents as a static encephalopathy with developmental delays, hypotonia, and seizures. METHODS: A six-month-old previously healthy girl developed acute choreoathetosis and severe hypotonia in the setting of influenza A infection. In our database of 112 patients with succinic semialdehyde dehydrogenase deficiency, one additional patient was identified who presented with an acute illness (encephalopathy associated with bronchiolitis at age five months)...
May 2016: Pediatric Neurology
J S Lim, E S Tan, C M John, S Poh, S J Yeo, J S M Ang, P Adakalaisamy, R A Rozalli, C Hart, E T H Tan, E Ranieri, V S Rajadurai, M A Cleary, D L M Goh
IEM screening by ESI/MS/MS was introduced in Singapore in 2006. There were two phases; a pilot study followed by implementation of the current program. The pilot study was over a 4 year period. During the pilot study, a total of 61,313 newborns were screened, and 20 cases of IEM were diagnosed (detection rate of 1:3065; positive predictive value (PPV) of 11%). Regular self-review, participation in external quality assessment and the Region 4 Genetic collaborative programs ( had led to the robust development of our current NBS MS/MS program...
September 2014: Molecular Genetics and Metabolism
F Sedel
Inborn errors of metabolism (IEM) are caused by mutations in genes coding for enzymes and other proteins involved in cell metabolism. Many IEM can be treated effectively. Although IEM have usually been considered pediatric diseases, they can present at any age, mostly with neurological and psychiatric symptoms, and therefore constitute an integral subspeciality of neurology. However, although they are increasingly being recognized, IEM remain rare, and the care for patients should be optimized in specialized reference centers...
February 2013: Revue Neurologique
Monika Olischar, Eilon Shany, Canan Aygün, Denis Azzopardi, Rod W Hunt, Mona C Toet, Ada Hamosh, Linda S de Vries, Lena Hellström-Westas, Christiane Theda
BACKGROUND: The utility of amplitude-integrated electroencephalography (aEEG) monitoring has been established for patients with neonatal hypoxic-ischemic encephalopathy. OBJECTIVE: To evaluate the role of aEEG in the diagnostic process and treatment of patients with encephalopathy due to inborn errors of metabolism. METHODS: Cases collected through an international registry were divided into 5 groups of metabolic disorders. Common aEEG features were sought for each group...
2012: Neonatology
Yannis L Loukas, Georgios-Stefanos Soumelas, Yannis Dotsikas, Vassiliki Georgiou, Elina Molou, Georgia Thodi, Maria Boutsini, Sofia Biti, Konstantinos Papadopoulos
In Greece, the National Newborn Screening Program was initiated in 1974 and is performed by the Institute of Child Health (ICH). However, there is a complete absence of conditions that have high rates of mortality and a relatively high prevalence listed in the Catalogue of Disorders screened by the ICH. Our laboratory has expanded the existing NBS program to include newborn screening for inborn errors of metabolism, screening for cystic fibrosis (the most common congenital disorder in the Greek population), congenital adrenal hyperplasia, and for biotinidase deficiency...
December 2010: Journal of Inherited Metabolic Disease
Hissa Moammar, George Cheriyan, Revi Mathew, Nouriya Al-Sannaa
BACKGROUND AND OBJECTIVES: Individual inborn errors of metabolism (IEM) are rare disorders, but may not be that uncommon in our patient population. We report the incidence of IEM in a defined cohort of births at the Saudi Aramco medical facilities in the Eastern Province of Saudi Arabia over 25 years. METHODS: The records of all patients diagnosed with IEM from 1 January 1983 to 31 December 2008 were reviewed and categorized according to accumulated or deficient metabolites into small-molecule disorders (aminoacidemia, organic acidopathies [OA], urea cycle defects, fatty acid oxidation, and carbohydrate metabolic disorders) and other disorders, including glycogen and lysosomal storage disorders (LSDs), and organelle disorders...
July 2010: Annals of Saudi Medicine
Dau-Ming Niu, Yin-Hsiu Chien, Chuan-Chi Chiang, Hui-Chen Ho, Wuh-Liang Hwu, Shu-Min Kao, Szu-Hui Chiang, Chuan-Hong Kao, Tze-Tze Liu, Hung Chiang, Kwang-Jen Hsiao
In Taiwan, during the period March 2000 to June 2009, 1,495,132 neonates were screened for phenylketonuria (PKU) and homocystinuria (HCU), and 1,321,123 neonates were screened for maple syrup urine disease (MSUD), methylmalonic academia (MMA), medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency, isovaleric academia (IVA), and glutaric aciduria type 1 (GA-1) using tandem mass spectrometry (MS/MS). In a pilot study, 592,717 neonates were screened for citrullinemia, 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC) and other fatty acid oxidation defects in the MS/MS newborn screening...
October 2010: Journal of Inherited Metabolic Disease
Alexander A C Leung, Alicia K Chan, Justin A Ezekowitz, Alexander K C Leung
3-hydroxy-3-methylglutaryl-coenzyme A (HMG CoA) lyase deficiency is an inborn error of metabolism characterized by impairment of ketogenesis and leucine catabolism resulting in an organic acidopathy. In 1994, a case of dilated cardiomyopathy and fatal arrhythmia was reported in a 7-month-old infant. We report a case of dilated cardiomyopathy in association with HMG CoA lyase deficiency in a 23-year-old man with the acute presentation of heart failure. To our knowledge, this is the first case reported in an adult...
2009: Case Reports in Medicine
Gerald F Cox
Inborn errors of metabolism (IEM) account for only 5% of all pediatric cardiomyopathy and 15% of those with known causes, but they are of particular interest to clinicians because many have disease-specific treatments. More than 40 different IEM involving cardiomyopathy exist, including fatty acid oxidation defects, organic acidemias, amino acidopathies, glycogen storage diseases, and congenital disorders of glycosylation as well as peroxisomal, mitochondrial, and lysosomal storage disorders. Most IEM present in infancy or early childhood with signs and symptoms of multi-organ system dysfunction...
2007: Progress in Pediatric Cardiology
Mohammed Abdel-Hamid, Klara Tisocki, Laila Sharaf, Dina Ramadan
OBJECTIVE: The aim of this work was to develop a specific and validated tandem mass spectrometric (MS/MS) method for screening of amino acidopathies, organic acidurias, urea cycle disorders and fatty acid oxidation defects in Kuwaiti newborns and sick infants. MATERIALS AND METHODS: A total of 1,520 blood samples were tested for inborn metabolic disorders in Kuwaiti newborns and sick infants. Positive electrospray MS/MS was used to measure diagnostic acylcarnitines and amino acids in blood spots after simple extraction and derivatization procedures...
2007: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
David T Chuang, Jacinta L Chuang, R Max Wynn
Genetic disorders of BCAA metabolism produce amino acidopathies and various forms of organic aciduria with severe clinical consequences. A metabolic block in the oxidative decarboxylation of BCAA caused by mutations in the mitochondrial branched-chain alpha-keto acid dehydrogenase complex (BCKDC) results in Maple Syrup Urine Disease (MSUD) or branched-chain ketoaciduria. There are presently five known clinical phenotypes for MSUD, i.e., classic, intermediate, intermittent, thiamin-responsive, and dihydrolipoamide dehydrogenase (E3)-deficient, based on severity of the disease, response to thiamin therapy, and the gene locus affected...
January 2006: Journal of Nutrition
Louis E Bartoshesky
Newborn screening for metabolic, hematologic, and endocrinologic disorders is a well-established public health function. Recent technological advances have made screening possible for more disorders. For many of these disorders, there is evidence that screening is effective; however, some of these disorders are rare, and their response to therapy and their natural history are not completely understood. A number of states have instituted "expanded" newborn screening utilizing a combination of established and new technologies...
May 2003: Delaware Medical Journal
Carlo Dionisi-Vici, Cristiano Rizzo, Alberto B Burlina, Ubaldo Caruso, Gaetano Sabetta, Graziella Uziel, Damiano Abeni
OBJECTIVE: To estimate at the national level the overall and disease-specific incidence of inborn errors of metabolism not mass screened at birth. STUDY DESIGN: Prospective nonconcurrent study (1985-1997) on patients 0 to 17 years of age, diagnosed in 23 Italian pediatric reference centers. RESULTS: Cases (n = 1935) were recruited representing an incidence of 1:3707 live births for approximately 200 diseases. In the last 5 years the incidence was 1:2758, reflecting improved diagnostic facilities, better coverage, increased medical awareness, and newly discovered diseases...
March 2002: Journal of Pediatrics
S N Joshi, J Hashim, P Venugopalan
We analysed all patients < 18 years of age diagnosed with inborn errors of metabolism (IEM) in the Metabolic Division, Sultan Qaboos University Hospital, Muscat, Oman from June 1998 to December 2000. A total of 82 patients from 76 families were studied, of whom 33 (40%) were aged < 1 week at presentation. Disorders identified included different lysosomal storage disorders (22), organic acidurias (9), carbohydrate metabolic disorders (9), congenital lactic acidosis (9), urea cycle disorders (8), amino acidopathies (8), fatty acid oxidation defects (7/82) and various other miscellaneous disorders (10)...
March 2002: Annals of Tropical Paediatrics
L Bell, L Chan, W G Sherwood, R R McInnes
Low protein diets are used to treat infants and children with hyperammonemia due to urea cycle and other metabolic disorders as well as a number of amino and organic acidopathies. The incidence of these disorders is small and many are life-threatening. As a result, there is little in the literature on the dietary management of these patients. This paper draws on 10 years of clinical experience at the Hospital for Sick Children in Toronto, Ontario and presents a guide to the preparation of infant formulas providing levels of protein intake from 0...
October 1982: Journal of the Canadian Dietetic Association
R W Watts, M Baraitser, R A Chalmers, P Purkiss
In order to evaluate the contribution of patients with organic aciduria and amino acidopathies to populations with severe long-term mental handicap, urine from a total of 1,778 such patients from four hospitals has been examined for organic acids and amino acids. The patients have been classified into eight groups according to the nature of their handicap. It is concluded that, apart from phenylketonuria originating from before dietary treatment was available, known inherited metabolic diseases do not contribute significantly to the incidence of mental handicap in the population studied...
December 1980: Journal of Mental Deficiency Research
R A Chalmers, P Purkiss, R W Watts, A M Lawson
No abstract text is available yet for this article.
1980: Journal of Inherited Metabolic Disease
N Kaabachi, A Mebazaa, L Hamza, S Ben Miled, J Abdelmoula
No abstract text is available yet for this article.
November 1989: La Tunisie Médicale
R Kurz, T Kenner, F Reiterer, R Schenkeli, R Haidmayer, S Stöckler, E Paschke
Near miss events or apparent life threatening events (ALTE) are considered preliminary stages of sudden infant death syndrome (SIDS). The current definition of near miss SIDS postulates that such an event happens unexpectedly and that no life threatening cause of disease can be detected. However in 32 of 34 observations of ALTE pathological changes actually could be identified by through investigations: 11 central nervous diseases, 10 respiratory tract disturbances, 5 metabolic abnormalities, 5 disturbances of the digestive tract and 1 cardiac disease...
1990: Acta Paediatrica Hungarica
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