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Inborn error of metabolism

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https://www.readbyqxmd.com/read/29227331/unravelling-new-pathways-of-sterol-metabolism-lessons-learned-from-in-born-errors-and-cancer
#1
Yuqin Wang, William J Griffiths
PURPOSE OF REVIEW: To update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways. RECENT FINDINGS: Patients suffering from inborn errors of sterol biosynthesis, transport and metabolism display unusual metabolic pathways, which may be major routes in the diseased state but minor in the healthy individual. Although quantitatively minor, these pathways may still be important in healthy individuals...
December 11, 2017: Current Opinion in Clinical Nutrition and Metabolic Care
https://www.readbyqxmd.com/read/29226552/spontaneously-regressing-brain-lesions-in-smith-lemli-opitz-syndrome
#2
An N Dang Do, Eva H Baker, Katherine E Warren, Simona E Bianconi, Forbes D Porter
Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder caused by an inborn error of cholesterol synthesis that affects the development of many organ systems. Malformations in the central nervous system typically involve midline structures and reflect abnormal growth and differentiation of neurons and supporting cells. Despite these defects in central nervous system development, brain tumor formation has only rarely been reported in association with SLOS. We present three individuals with SLOS and lesions in the basal ganglia or brainstem detected by MRI that were concerning for tumor formation...
December 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29218437/d-lactic-acidosis-in-humans-systematic-literature-review
#3
Davide G A M Bianchetti, Giacomo S Amelio, Sebastiano A G Lava, Mario G Bianchetti, Giacomo D Simonetti, Carlo Agostoni, Emilio F Fossali, Gregorio P Milani
BACKGROUND: D-lactic acidosis is an uncommon and challenging form of metabolic acidosis that may develop in short bowel syndrome. It has been documented exclusively in case reports and small case series. METHODS: We performed a review of the literature in the National Library of Medicine and Excerpta Medica databases. RESULTS: We identified 84 original reports published between 1977 and 2017. D-lactic acidosis was observed in 98 individuals ranging in age from 7 months to 86 years with short bowel syndrome...
December 7, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29217372/acute-peritoneal-dialysis-in-neonatal-intensive-care-unit-an-8-year-experience-of-a-referral-hospital
#4
Aslihan Kara, Metin Kaya Gurgoze, Mustafa Aydin, Erdal Taskin, Unal Bakal, Aysen Orman
BACKGROUND: The aim of present study was to evaluate the indications, complications and outcomes of acute peritoneal dialysis (APD) in neonates at a referral university hospital during the previous 8 years. METHODS: This retrospective analysis included a total of 52 newborn infants who underwent APD in a neonatal intensive care unit between January 2008 and March 2016. Demographic, clinical, laboratory and microbiological data were extracted from patients' medical files...
November 16, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29215423/galt-deficiency-galactosemia
#5
Sharon Anderson
Galactosemia is an inborn error of galactose metabolism that results from a deficiency in one of three enzymes, uridine diphosphate galactose 4'epimerase, galactokinase, or galactose-1-phosphate uridyltransferase (GALT). This article focuses on classical, clinical variant, and biochemical variant (Duarte) galactosemias caused by GALT enzyme deficiency. A brief overview of galactosemia and newborn screening is presented, followed by detailed information about each of the conditions. Confirmatory testing, acute and long-term management, and outcome for these galactosemia types are discussed as well as the importance of genetic counseling and testing for the infant and family to refine reproductive risk...
January 2018: MCN. the American Journal of Maternal Child Nursing
https://www.readbyqxmd.com/read/29213153/reference-values-of-amino-acids-acylcarnitines-and-succinylacetone-by-tandem-mass-spectrometry-for-use-in-newborn-screening-in-southwest-colombia
#6
Nora Céspedes, Angela Valencia, Carlos Alberto Echeverry, Maria Isabel Arce-Plata, Cristóbal Colón, Daisy E Castiñeiras, Paula Margarita Hurtado, Jose Angel Cocho, Sócrates Herrera, Myriam Arévalo-Herrera
Introduction: Inborn errors of metabolism (IEM) represent an important public health problem due to current diagnosis and treatment limitations, poor life quality of affected patients, and consequent untimely child death. In contrast to classical methods, tandem mass spectrometry (MS/MS) has allowed simultaneous evaluation of multiple metabolites associated with IEM offering higher sensitivity, low false positive rates and high throughput. Aims: Determine concentration levels for amino acids and acylcarnitines in blood of newborns from Colombia, to establish reference values for further use in diagnosis of IEM...
September 30, 2017: Colombia Médica: CM
https://www.readbyqxmd.com/read/29211263/metabolic-screening-and-metabolomics-analysis-in-the-intellectual-developmental-disorders-mexico-study
#7
Isabel Ibarra-González, Rocío Rodríguez-Valentín, Eduardo Lazcano-Ponce, Marcela Vela-Amieva
OBJECTIVE: Inborn errors of metabolism (IEM) are genetic conditions that are sometimes associated with intellectual developmental disorders (IDD). The aim of this study is to contribute to the metabolic characterization of IDD of unknown etiology in Mexico. MATERIALS AND METHODS: Metabolic screening using tandem mass spectrometry and fluorometry will be performed to rule out IEM. In addition, target metabolomic analysis will be done to characterize the metabolomic profile of patients with IDD...
July 2017: Salud Pública de México
https://www.readbyqxmd.com/read/29209542/skin-lesions-associated-with-nutritional-management-of-maple-syrup-urine-disease
#8
Jaraspong Uaariyapanichkul, Puthita Saengpanit, Ponghatai Damrongphol, Kanya Suphapeetiporn, Sirinuch Chomtho
Introduction: Maple syrup urine disease (MSUD) is an inborn error of branched chain amino acids (BCAAs) metabolism. We report an infant with MSUD who developed 2 episodes of cutaneous lesions as a result of isoleucine deficiency and zinc deficiency, respectively. Case Presentation: A 12-day-old male infant was presented with poor milk intake and lethargy. The diagnosis of MSUD was made based on clinical and biochemical data. Management and Outcome: Specific dietary restriction of BCAAs was given...
2017: Case Reports in Dermatological Medicine
https://www.readbyqxmd.com/read/29209134/metabolically-based-liver-damage-pathophysiology-in-patients-with-urea-cycle-disorders-a-new-hypothesis
#9
Ivan Ivanovski, Miloš Ješić, Ana Ivanovski, Livia Garavelli, Petar Ivanovski
The underlying pathophysiology of liver dysfunction in urea cycle disorders (UCDs) is still largely elusive. There is some evidence that the accumulation of urea cycle (UC) intermediates are toxic for hepatocyte mitochondria. It is possible that liver injury is directly caused by the toxicity of ammonia. The rarity of UCDs, the lack of checking of iron level in these patients, superficial knowledge of UC and an underestimation of the metabolic role of fumaric acid, are the main reasons that are responsible for the incomprehension of the mechanism of liver injury in patients suffering from UCDs...
November 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29207797/audit-of-organic-acidurias-from-a-single-centre-clinical-and-metabolic-profile-at-presentation-with-long-term-outcome
#10
Seema Pavaman Sindgikar, Krithika Damodar Shenoy, Nutan Kamath, Rathika Shenoy
Introduction: Organic Acidurias (OA) accounts between 10% and 40% of confirmed Inborn Errors of Metabolism (IEM) in India. With prompt recognition and management, better survival but adverse neurodevelopmental outcome is reported. Aim: To study the clinical and metabolic presentation, management with immediate and long term outcome of symptomatic children with confirmed OA. Materials and Methods: Hospital based study of symptomatic children diagnosed to have OA between 2003 and 2009 and the survivors followed up over next five years...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29203429/oxidative-stress-in-urea-cycle-disorders-findings-from-clinical-and-basic-research
#11
REVIEW
Belisa Parmeggiani, Carmen Regla Vargas
Inborn errors of metabolism (IEM) comprise a group of over 600 disorders, each with a specific metabolic impairment due to a genetic defect. Urea cycle disorders (UCD) are IEM that affect the nitrogen disposal system, leading to hyperammonemia and the accumulation of other toxic metabolites in tissues of affected patients. UCD arise from mutations in the genes coding any of the enzymes participating in the urea cycle, either directly or as regulators of this pathway, causing severe respiratory alkalosis. Considering that the exact mechanisms underlying the damage found in UCD, the purpose of this minireview is to obtain data and search for links between UCD and oxidative stress, a phenomenon common to several IEM...
December 1, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29203193/fructose-1-6-bisphosphatase-deficiency-as-a%C3%A2-cause-of-recurrent-hypoglycemia-and-metabolic-acidosis-clinical-and-molecular-findings-in-malaysian-patients
#12
Lip Hen Moey, Nor Azimah Abdul Azize, Yusnita Yakob, Huey Yin Leong, Wee Teik Keng, Bee Chin Chen, Lock Hock Ngu
BACKGROUND: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive inborn error of gluconeogenesis. We reported the clinical findings and molecular genetic data in seven Malaysian patients with FBPase deficiency. METHODS: All patients diagnosed with FBPase deficiency from 2010 to 2015 were included in this study. Their clinical and laboratory data were collected retrospectively. RESULTS: All the patients presented with recurrent episodes of hypoglycemia, metabolic acidosis, hyperlactacidemia and hepatomegaly...
November 13, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29201369/x-linked-adult-onset-adrenoleukodystrophy-psychiatric-and-neurological-manifestations
#13
Daniah Shamim, Karen Alleyne
Adult-onset adrenoleukodystrophy is a rare x-linked inborn error of metabolism occurring predominantly in males with onset in early 30s. Here, we report a 34-year-old male with first signs of disease in early 20s manifesting as a pure psychiatric disorder. Prior to onset of neurological symptoms, this patient demonstrated a schizophrenia and bipolar-like presentation. The disease progressed over the next 10-13 years and his memory and motor problems became evident around the age of 33 years. Subsequently, diagnostic testing showed the typical magnetic resonance imaging and lab findings for adult-onset adrenoleukodystrophy...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29193034/hypermanganesemia-with-dystonia-polycythemia-and-cirrhosis-in-10-patients-six-novel-slc30a10-mutations-and-further-phenotype-delineation
#14
M S Zaki, M Y Issa, H M Elbendary, H El-Karaksy, H Hosny, C Ghobrial, A El Safty, A El-Hennawy, A Oraby, L Selim, M S Abdel-Hamid
Biallelic mutations in the SLC30A10 gene cause an inborn error of Mn metabolism characterized by hypermanganesemia, polycythemia, early-onset dystonia, and liver cirrhosis (HMDPC). To-date only 14 families from various ethnic groups have been reported. Here, we describe 10 patients from 7 unrelated Egyptian families with HMDPC. Markedly elevated blood Mn levels, the characteristic basal ganglia hyperintensity on T1W images, and variable degrees of extrapyramidal manifestations with or without liver disease were cardinal features in all patients...
November 28, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29181134/a-nine-month-old-boy-with-atypical-hemophagocytic-lymphohistiocytosis
#15
Monia Ouederni, Monia Ben Khaled, Samia Rekaya, Ilhem Ben Fraj, Fethi Mellouli, Mohamed Bejaoui
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and histiocytes. Often, HLH is an acquired syndrome. We report a case of a nine month-old-boy presented with hepatosplenomegaly, severe anemia, thrombocytopenia, hypertriglyceridemia and high hyperferritinemia. These clinical features of HLH prompted a wide range of infectious and auto-immune tests to be performed. After an extensive diagnostic workup, he was referred to the immune-hematologic unit for HLH suspicion with an unknown cause...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29174367/exercising-with-blocked-muscle-glycogenolysis-adaptation-in-the-mcardle-mouse
#16
Tue L Nielsen, Tomàs Pinós, Astrid Brull, John Vissing, Thomas O Krag
BACKGROUND: McArdle disease (glycogen storage disease type V) is an inborn error of skeletal muscle metabolism, which affects glycogen phosphorylase (myophosphorylase) activity leading to an inability to break down glycogen. Patients with McArdle disease are exercise intolerant, as muscle glycogen-derived glucose is unavailable during exercise. Metabolic adaptation to blocked muscle glycogenolysis occurs at rest in the McArdle mouse model, but only in highly glycolytic muscle. However, it is unknown what compensatory metabolic adaptations occur during exercise in McArdle disease...
November 21, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29172660/-diagnostics-of-inborn-errors-of-metabolism-laboratory-approaches
#17
Eszter Szabó, Lídia Balogh, Attila Szabó, Ildikó Szatmári
Inherited errors of metabolism are rare genetic disorders characterized by diverse clinical and biochemical phenotypes. The complexity of signs and symptoms often presents a challenge for both clinicians and laboratory specialists. In many cases, prevention of permanent neurological symptoms or death in patients presenting these disorders is dependent on early diagnosis and introduction of appropriate therapy. For professionals it is indispensable to be familiar with the major clinical signs of inborn errors of metabolism and with the necessary and available laboratory studies to achieve an early diagnosis...
December 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29159724/turkish-case-of-ethylmalonic-encephalopathy-misdiagnosed-as-short-chain-acyl-coa-dehydrogenase-deficiency
#18
Fatma Derya Bulut, Deniz Kör, Berna Şeker-Yılmaz, Gülen Gül-Mert, Sebile Kılavuz, Neslihan Önenli-Mungan
Ethylmalonic encephalopathy is a very rare autosomal recessively inherited inborn error of metabolism; characterized by encephalopathy, recurrent petechiae without bleeding diathesis, chronic diarrhea, and orthostatic acrocyanosis. Here, we describe a case of ethylmalonic encephalopathy with late onset neurologic symptoms and a confusing family history of two deceased brothers with the wrong suspicion of short chain acyl-CoA dehydrogenase deficiency.
November 20, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29159707/propionyl-coa-carboxylase-pcca-1-and-pccb-1-gene-deletions-in-caenorhabditis-elegans-globally-impair-mitochondrial-energy-metabolism
#19
Kimberly A Chapman, Julian Ostrovsky, Meera Rao, Stephen D Dingley, Erzsebet Polyak, Marc Yudkoff, Rui Xiao, Michael J Bennett, Marni J Falk
Propionic acidemia (PA) is a classical inborn error of metabolism with high morbidity that results from the inability of the propionyl-CoA carboxylase (PCC) enzyme to convert propionyl-CoA to methylmalonyl-CoA. PA is inherited in an autosomal recessive fashion due to functional loss of both alleles of either PCCA or PCCB. These genes are highly conserved across evolutionarily diverse species and share extensive similarity with pcca-1 and pccb-1 in the nematode, Caenorhabditis elegans. Here, we report the global metabolic effects of deletion in a single PCC gene, either pcca-1 or pccb-1, in C...
November 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29155436/enzyme-replacement-therapy-for-infantile-onset-pompe-disease
#20
REVIEW
Min Chen, Lingli Zhang, Shuyan Quan
BACKGROUND: Infantile-onset Pompe disease is a rare and progressive autosomal-recessive disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Current treatment involves enzyme replacement therapy (with recombinant human alglucosidase alfa) and symptomatic therapies (e.g. to control secretions). Children who are cross-reactive immunological material (CRIM)-negative require immunomodulation prior to commencing enzyme replacement therapy.Enzyme replacement therapy was developed as the most promising therapeutic approach for Pompe disease; however, the evidence is lacking, especially regarding the optimal dose and dose frequency...
November 20, 2017: Cochrane Database of Systematic Reviews
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