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Reza Najafi, Mahin Hashemipour, Omid Yaghini, Fatemeh Najafi, Amirsalar Rashidianfar
CONTEXT: Aminoacidopathies refer to defects in protein synthesis pathways which result in a range of biochemical disorders and clinical presentations. The enzyme defects in intermediate metabolic pathways lead to accumulation of one or more amino acids or metabolites. Despite higher prevalence rates, screening infants for inherited metabolic disorders is not run in many Middle East countries. AIM: This research is part of a larger study of inherited metabolic disorders to characterize and measure the prevalence of aminoacidopathies...
September 2016: Indian Journal of Endocrinology and Metabolism
Karin Pichler, Miriam Michel, Manuela Zlamy, Sabine Scholl-Buergi, Elisabeth Ralser, Monika Jörg-Streller, Daniela Karall
BACKGROUND: Published data on breast milk feeding in infants suffering from inherited metabolic disorders (IMDs) other than phenylketonuria (PKU) are limited and described outcome is variable. OBJECTIVE: We aimed to evaluate retrospectively whether breastfeeding and/or breast milk feeding are feasible in infants with IMDs including organic acidemias, fatty acid oxidation disorders, urea cycle disorders, aminoacidopathies or disorders of galactose metabolism. METHODS: Data on breastfeeding and breast milk feeding as well as monitoring and neurological outcome were collected retrospectively from our database of patients with the mentioned IMD, who were followed in our metabolic center within the last 10 years...
August 26, 2016: Journal of Perinatal Medicine
Christine Vianey-Saban, Cécile Acquaviva, David Cheillan, Sophie Collardeau-Frachon, Laurent Guibaud, Cécile Pagan, Magali Pettazzoni, Monique Piraud, Antonin Lamazière, Roseline Froissart
Inborn errors of metabolism (IEMs) that present with abnormal imaging findings in the second half of pregnancy are mainly lysosomal storage disorders (LSDs), cholesterol synthesis disorders (CSDs), glycogen storage disorder type IV (GSD IV), peroxisomal disorders, mitochondrial fatty acid oxidation defects (FAODs), organic acidurias, aminoacidopathies, congenital disorders of glycosylation (CDGs), and transaldolase deficiency. Their biological investigation requires fetal material. The supernatant of amniotic fluid (AF) is useful for the analysis of mucopolysaccharides, oligosaccharides, sialic acid, lysosphingolipids and some enzyme activities for LSDs, 7- and 8-dehydrocholesterol, desmosterol and lathosterol for CSDs, acylcarnitines for FAODs, organic acids for organic acidurias, and polyols for transaldolase deficiency...
September 2016: Journal of Inherited Metabolic Disease
Parvaneh Karimzadeh, Narjes Jafari, Habibeh Nejad Biglari, Sayena Jabbehdari, Simin Khayat Zadeh, Farzad Ahmad Abadi, Azra Lotfi
OBJECTIVE: We aimed to investigate the clinical and para clinical manifestations of neuro metabolic disorders, in patients who presented by neuro developmental delay in their neuro developmental milestones. MATERIALS & METHODS: The patients diagnosed as neuro developmental delay and regression with or without seizure at the Neurology Department of Mofid Children Hospital in Tehran, Iran between 2004 and 2014 were included in our study. These patients diagnosed as neuro developmental delay by pediatric neurologists in view of diagnostic /screening neuro developmental assessment tests...
2016: Iranian Journal of Child Neurology
Miriam S W Wisniewski, Milena Carvalho-Silva, Lara M Gomes, Hugo G Zapelini, Patrícia F Schuck, Gustavo C Ferreira, Giselli Scaini, Emilio L Streck
Maple syrup urine disease (MSUD) is an inherited aminoacidopathy resulting from dysfunction of the branched-chain keto acid dehydrogenase complex, leading to accumulation of the branched-chain amino acids (BCAA) leucine, isoleucine and valine as well as their corresponding transaminated branched-chain α-ketoacids. This disorder is clinically characterized by ketoacidosis, seizures, coma, psychomotor delay and mental retardation whose pathophysiology is not completely understood. Recent studies have shown that oxidative stress may be involved in neuropathology of MSUD...
April 2016: Metabolic Brain Disease
Zoltan Patay, Susan I Blaser, Andrea Poretti, Thierry A G M Huisman
Metabolic diseases affecting the pediatric brain are complex conditions, the underlying mechanisms leading to structural damage are diverse and the diagnostic imaging manifestations are often non-specific; hence early, sensitive and specific diagnosis can be challenging for the radiologist. However, misdiagnosis or a delayed diagnosis can result in a devastating, irreversible injury to the developing brain. Based upon the inborn error, neurometabolic diseases can be subdivided in various groups depending on the predominantly involved tissue (e...
September 2015: Pediatric Radiology
Sarar Mohamed, Ebtessam M El Melegy, Iman Talaat, Amany Hosny, Khaled K Abu-Amero
BACKGROUND: Data on the pattern of epilepsy caused by metabolic disorders in the first 2 years of life are limited in developing countries. We aimed to identify the metabolic causes of epilepsy presented in the first 2 years of life and to describe their clinical, radiological, molecular, and electroencephalographic characteristics. METHODS: This retrospective study was conducted between January 2010 and December 2011 at Saad Specialist Hospital (Al Khobar, Saudi Arabia)...
December 2015: Pediatrics and Neonatology
Yen-Chu Chen, Po-Ling Chang
Physiological amino acids (AAs) are important indices for monitoring various diseases, including cancer. This study proposes a polymer-based separation method in the presence of mixed micelles for the determination of AAs by capillary electrophoresis with light-emitting diode-induced fluorescence. The separation of 18 amino acid-cyano[f]benzoisoindoles (AA-CBIs) was successfully achieved using a solution of polyvinylpyrrolidone (PVP, 5% w/v, Mavg 1,300,000 Da). In addition, we demonstrated that mixed micelles composed of sodium dodecyl sulfate and isopropanol may affect the migration order of the AA-CBIs and greatly improve the speed of separation...
February 7, 2015: Analyst
Filipa B Pimentel, Rita C Alves, M Teresa Oliva-Teles, Anabela S G Costa, Telmo J R Fernandes, Manuela F Almeida, Duarte Torres, Cristina Delerue-Matos, M Beatriz P P Oliveira
Among aminoacidopathies, phenylketonuria (PKU) is the most prevalent one. Early diagnosis in the neonatal period with a prompt nutritional therapy (low natural-protein and phenylalanine diet, supplemented with phenylalanine-free amino acid mixtures and special low-protein foods) remains the mainstay of the treatment. Data considering nutrient contents of cooked dishes is lacking. In this study, fourteen dishes specifically prepared for PKU individuals were analysed, regarding the lipid profile and iron and zinc contents...
December 2014: Food & Function
Benjamin Seidel, Gina Benaquista Desipio
Singultus, or hiccups, are involuntary spasms of the diaphragm that in most cases are harmless and self-limited. Treatments are reserved for those cases that persist, and current options include pharmacotherapeutics, complementary methods (such as acupuncture), and osteopathic manipulative treatment. A 32-year-old woman with stiff person syndrome and concurrent aminoacidopathy in the setting of acute inpatient rehabilitation was experiencing daily bouts of singultus, ranging from 20-minute to 5-hour durations...
August 2014: Journal of the American Osteopathic Association
Caroline Paula Mescka, Carlos Alberto Yasin Wayhs, Gilian Guerreiro, Vanusa Manfredini, Carlos Severo Dutra-Filho, Carmen Regla Vargas
Maple syrup urine disease (MSUD) is an inherited aminoacidopathy caused by a deficiency in branched-chain α-keto acid dehydrogenase complex activity that leads to the accumulation of the branched-chain amino acids (BCAAs) leucine (Leu), isoleucine, and valine and their respective α-keto-acids, α-ketoisocaproic acid (KIC), α keto-β-methylvaleric acid, and α-ketoisovaleric acid. The major clinical features presented by MSUD patients include ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay, and mental retardation; however, the pathophysiology of this disease is poorly understood...
September 15, 2014: Gene
Kara R Vogel, Erland Arning, Brandi L Wasek, Sterling McPherson, Teodoro Bottiglieri, K Michael Gibson
BACKGROUND: Conventional therapy for patients with maple syrup urine disease (MSUD) entails restriction of protein intake to maintain acceptable levels of the branched chain amino acid, leucine (LEU), monitored in blood. However, no data exists on the correlation between brain and blood LEU with protein restriction, and whether correction in blood is reflected in brain. METHODS: To address this question, we fed intermediate MSUD mice diets of 19% (standard) and 6% protein, with collection of sera (SE), striata (STR), cerebellum (CE) and cortex (CTX) for quantitative amino acid analyses...
2014: Orphanet Journal of Rare Diseases
Yan-yan Ma, Tong-fei Wu, Yu-peng Liu, Qiao Wang, Xi-yuan Li, Yuan Ding, Jin-qing Song, Yan-ling Yang
OBJECTIVE: Mitochondrial disease is a group of energy metabolic disorders, characterized by involvement of multisystem with high energy requirements. Encephalomyopathies are common clinical findings of the mitochondrial diseases. However, mitochondrial cardiac damage is not rare. In this study, the clinical, biological, and genetic analyses were performed in three patients with mitochondrial cardiac damage, in order to understand the characteristics of mitochondrial diseases. METHOD: Three girls presented with arrhythmia and cardiac enlargement from the age of 3, 4 and 8 years respectively...
December 2013: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Jia-Woei Hou
Maple syrup urine disease (MSUD) is an autosomal recessive aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids (BCAAs: leucine, isoleucine, and valine). Accumulation of their corresponding keto-acids leads to encephalopathy if not treated in time. A newborn male patient was suspected to have MSUD after tandem mass study when he presented symptoms and signs suggestive neonatal sepsis, anemia, and diarrhea. Food restriction of BCAAs was started; however, acrodermatitis enteropathica-like skin eruptions occurred at age 2 months...
January 29, 2014: Pediatrics and Neonatology
Danique van Vliet, Terry G J Derks, Margreet van Rijn, Martijn J de Groot, Anita MacDonald, M Rebecca Heiner-Fokkema, Francjan J van Spronsen
Aminoacidopathies are a group of rare and diverse disorders, caused by the deficiency of an enzyme or transporter involved in amino acid metabolism. For most aminoacidopathies, dietary management is the mainstay of treatment. Such treatment includes severe natural protein restriction, combined with protein substitution with all amino acids except the amino acids prior to the metabolic block and enriched with the amino acid that has become essential by the enzymatic defect. For some aminoacidopathies, supplementation of one or two amino acids, that have not become essential by the enzymatic defect, has been suggested...
2014: Orphanet Journal of Rare Diseases
W Blom, J G Huijmans
Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in urine can be due to various etiology. To differentiate between primary and secondary aminoacido-pathies systematic laboratory investigation is necessary. Early diagnosis of disorders of amino acid metabolism or transport is very important, because most of them can be treated, leading to the prevention of (further) clinical abnormalities...
February 1992: Amino Acids
Jennifer M Kwon, Kristin E D'Aco
This article reviews aspects of the neurologic presentations of selected treatable inborn errors of metabolism within the category of small molecule disorders caused by defects in pathways of intermediary metabolism. Disorders that are particularly likely to be seen by neurologists include those associated with defects in amino acid metabolism (organic acidemias, aminoacidopathies, urea cycle defects). Other disorders of small molecule metabolism are discussed as additional examples in which early treatments have the potential for better outcomes...
November 2013: Neurologic Clinics
I Ibarra-González, C Fernández-Lainez, L Belmont-Martínez, S Guillén-López, S Monroy-Santoyo, M Vela-Amieva
INTRODUCTION: Inborn errors of intermediary metabolism (IEiM) are a group of heterogeneous genetic diseases that are diagnostically challenging and cause significant morbidity and mortality. The aim of this study is to perform a descriptive analysis of the number, type, and clinical features, in a series of cases with IEiM identified through selective diagnosis in a highly specialized pediatric hospital. MATERIALS AND METHODS: A retrospective study was performed from January of 2000 to December of 2012 by analyzing the files of 204 patients with an IEiM, by selective screening, before and after the implementation of tandem mass spectrometry (MS/MS)...
May 2014: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
Pascale E Karam, Mohammad-Zuheir Habbal, Mohamad A Mikati, Ghazi E Zaatari, Najwa K Cortas, Rose T Daher
BACKGROUND: Diagnosis of aminoacidopathies and organic acidemias constitutes a real challenge in a developing country with high consanguinity rate and no systematic newborn screening. We report a twelve-year experience with the identification of these disorders in Lebanon, based on their clinical and biochemical profiles. METHODS: In this retrospective study, we reviewed clinical presentation and biochemical investigations of 294 patients. Traditional chromatographic methods were used for analyses...
December 2013: Clinical Biochemistry
Germaine Pierre
Most genetic causes of neurodegenerative disorders in childhood are due to neurometabolic disease. There are over 200 disorders, including aminoacidopathies, creatine disorders, mitochondrial cytopathies, peroxisomal disorders and lysosomal storage disorders. However, diagnosis can pose a challenge to the clinician when patients present with non-specific problems like epilepsy, developmental delay, autism, dystonia and ataxia. The variety of specialist tests involved can also be daunting. This review aims to give a practical approach to the investigation and diagnosis of neurometabolic disease from the neonatal period to late childhood while prioritising disorders where there are therapeutic options...
August 2013: Archives of Disease in Childhood
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