keyword
MENU ▼
Read by QxMD icon Read
search

Tyrosinemia

keyword
https://www.readbyqxmd.com/read/28315992/omega-3-fatty-acid-supplementation-decreases-dna-damage-in-brain-of-rats-subjected-to-a-chemically-induced-chronic-model-of-tyrosinemia-type-ii
#1
Milena Carvalho-Silva, Lara M Gomes, Giselli Scaini, Joyce Rebelo, Adriani P Damiani, Maiara Pereira, Vanessa M Andrade, Fernanda F Gava, Samira S Valvassori, Patricia F Schuck, Gustavo C Ferreira, Emilio L Streck
Tyrosinemia type II is an inborn error of metabolism caused by a mutation in a gene encoding the enzyme tyrosine aminotransferase leading to an accumulation of tyrosine in the body, and is associated with neurologic and development difficulties in numerous patients. Because the accumulation of tyrosine promotes oxidative stress and DNA damage, the main aim of this study was to investigate the possible antioxidant and neuroprotective effects of omega-3 treatment in a chemically-induced model of Tyrosinemia type II in hippocampus, striatum and cerebral cortex of rats...
March 18, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28274233/newborn-screening-for-tyrosinemia-type-1-using-succinylacetone-a-systematic-review-of-test-accuracy
#2
REVIEW
Chris Stinton, Julia Geppert, Karoline Freeman, Aileen Clarke, Samantha Johnson, Hannah Fraser, Paul Sutcliffe, Sian Taylor-Phillips
BACKGROUND: Tyrosinemia type 1 is an autosomal recessive disorder of amino acid metabolism. Without treatment, death in childhood is common. Treatment with nitisinone and dietary restrictions are associated with improved outcomes; some studies suggest better outcomes when treatment begins at an asymptomatic stage. Newborn screening allows for earlier identification, but there is uncertainty regarding the test accuracy of the current method: succinylacetone measurement in dried blood spots using tandem mass spectrometry...
March 9, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28255985/tyrosinemia-type-ii-mutation-update-eleven-novel-mutations-and-description-of-five-independent-subjects-with-a-novel-founder-mutation
#3
Luis Peña-Quintana, Gerd Scherer, María Lutgarda Curbelo-Estévez, Francisco Jiménez-Acosta, Britta Hartmann, Fátima La Roche, Silvia Meavilla-Olivas, Celia Pérez-Cerdá, Nuria García Segarra, Yves Giguère, Peter Huppke, Grant A Mitchell, Eberhard Mönch, Dorothy Trump, Christine Vianey-Saban, Elisabeth R Trimble, Isidro Vitoria-Miñana, Desiderio Reyes-Suárez, Teresa Ramírez-Lorenzo, Antonio Tugores
Tyrosinemia type II, also known as Richner-Hanhart Syndrome, is an extremely rare autosomal recessive disorder, caused by mutations in the gene encoding hepatic cytosolic tyrosine aminotransferase, leading to the accumulation of tyrosine and its metabolites which cause ocular and skin lesions, that may be accompanied by neurological manifestations, mostly intellectual disability. We report eleven novel genetic variants and have performed an extensive review of all cases described in the literature, identifying a total of 106 families, represented by 143 individuals, carrying a total of 36 genetic variants including 3 large deletions, 21 non-synonymous and 5 nonsense amino-acid changes, 5 frameshifts and 2 splice variants resulting in reduced function, truncated or absent TAT polypeptides...
March 3, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28238287/genome-editing-for-inborn-errors-of-metabolism-advancing-towards-the-clinic
#4
REVIEW
Jessica L Schneller, Ciaran M Lee, Gang Bao, Charles P Venditti
Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative. Advances in the field of genome editing have recently resulted in the in vivo correction of murine models of IEM. Site-specific endonucleases, such as zinc-finger nucleases and the CRISPR/Cas9 system, in combination with delivery vectors engineered to target disease tissue, have enabled correction of mutations in disease models of hemophilia B, hereditary tyrosinemia type I, ornithine transcarbamylase deficiency, and lysosomal storage disorders...
February 27, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28203327/a-rapid-screening-test-on-dried-blood-for-the-neonatal-diagnosis-of-tyrosinemia-type-i
#5
Farahnaz Bodaghkhan, Bita Geramizadeh, Abbas Abdollah Rajeh, Mahmoud Haghighat, Mohsen Dehghani, Naser Honar, Mojgan Zahmatkeshan, Mohammad-Hadi Imanieh
BACKGROUND: Tyrosinemia is an inherited metabolic disorder characterized by elevated levels of tyrosine and its metabolites in plasma. Without treatment, the disease will progress to hepatic and renal failure, so that without liver transplantation will cause death in less than 10 years of age. So, early diagnosis and treatment can be life saving and crucial. It means that with early treatment starting in the neonatal period, the patient can have normal life with very few restrictions in diets containing tyrosine and phenylalanine...
October 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/28166616/palmoplantar-hyperkeratosis-with-a-linear-disposition-along-dermatoglyphics-a-clue-for-an-early-diagnosis-of-tyrosinemia-type-ii
#6
Luisa C Rossi, Francesca Santagada, Francesca Besagni, Stefano Cambiaghi, Elena Colombo, Michela Brena, Gianluca Tadini
No abstract text is available yet for this article.
April 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28128559/4-hydroxyphenylpyruvate-dioxygenase-and-its-inhibition-in-plants-and-animals-small-molecules-as-herbicides-and-agents-for-the-treatment-of-human-inherited-diseases
#7
Annalisa Santucci, Giulia Bernardini, Daniela Braconi, Elena Petricci, Fabrizio Manetti
This review mainly focuses on the physiological function of 4-hydroxyphenylpyruvate dioxygenase (HPPD), as well as on the development and application of HPPD inhibitors of several structural classes. Among them, one illustrative example is represented by compounds belonging to the class of triketone compounds. They were discovered by serendipitous observations on weed growth and were developed as bleaching herbicides. Informed reasoning on nitisinone (NTBC, 14), a triketone that failed to reach the final steps of the herbicidal design and development process, allowed it to become a curative agent for type I tyrosinemia (T1T), and to enter clinical trials for alkaptonuria...
January 27, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28121442/investigation-of-fibril-forming-mechanisms-of-l-phenylalanine-and-l-tyrosine-microscopic-insight-toward-phenylketonuria-and-tyrosinemia-type-ii
#8
Debasis Banik, Sangita Kundu, Pavel Banerjee, Rupam Dutta, Nilmoni Sarkar
Phenylketonuria and tyrosinemia type II, the two metabolic disorders, are originated due to the complications in metabolism of phenylalanine (Phe) and tyrosine (Tyr), respectively. Several neurological injuries, involving microcephaly, mental retardation, epilepsy, motor disease, and skin problems etc., are the symptoms of these two diseases. It has been reported that toxic amyloid fibrils are formed at high concentrations of Phe and Tyr. Our study indicates that the fibril forming mechanisms of Phe and Tyr are completely different...
February 8, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28120161/what-is-the-best-blood-sampling-time-for-metabolic-control-of-phenylalanine-and-tyrosine-concentrations-in-tyrosinemia-type-1-patients
#9
Esther van Dam, Anne Daly, Gineke Venema-Liefaard, Margreet van Rijn, Terry G J Derks, Patrick J McKiernan, M Rebecca Heiner-Fokkema, Anita MacDonald, Francjan J van Spronsen
BACKGROUND: Treatment of hereditary tyrosinemia type 1 with nitisinone and phenylalanine and tyrosine restricted diet has largely improved outcome, but the best blood sampling time for assessment of metabolic control is not known. AIM: To study diurnal and day-to-day variation of phenylalanine and tyrosine concentrations in tyrosinemia type 1 patients. METHODS: Eighteen tyrosinemia type 1 patients aged >1 year (median age 7.9 years; range 1...
January 25, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28054209/long-term-outcome-of-expanded-newborn-screening-at-boston-children-s-hospital-benefits-and-challenges-in-defining-true-disease
#10
Yuval E Landau, Susan E Waisbren, Lawrence M A Chan, Harvey L Levy
INTRODUCTION: There is no universal consensus of the disorders included in newborn screening programs. Few studies so far, mostly short-term, have compared the outcome of disorders detected by expanded newborn screening (ENBS) to the outcome of the same disorders detected clinically. METHODS: We compared the clinical and neurodevelopmental outcomes in patients with metabolic disorders detected by ENBS, including biotinidase testing, with those detected clinically and followed at the Metabolism Clinic at Boston Children's Hospital...
March 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28053091/fumarylacetoacetate-hydrolase-knockout-rabbit-model-for-hereditary-tyrosinemia-type-1
#11
Li Li, Quanjun Zhang, Huaqiang Yang, Qingjian Zou, Chengdan Lai, Fei Jiang, Ping Zhao, Zhiwei Luo, Jiayin Yang, Qian Chen, Yan Wang, Philip N Newsome, Jon Frampton, Patrick H Maxwell, Wenjuan Li, Shuhan Chen, Dongye Wang, Tak-Shing Siu, Sidney Tam, Hung-Fat Tse, Baoming Qin, Xichen Bao, Miguel A Esteban, Liangxue Lai
Hereditary tyrosinemia type 1 (HT1) is a severe human autosomal recessive disorder caused by the deficiency of fumarylacetoacetate hydroxylase (FAH), an enzyme catalyzing the last step in the tyrosine degradation pathway. Lack of FAH causes accumulation of toxic metabolites (fumarylacetoacetate and succinylacetone) in blood and tissues, ultimately resulting in severe liver and kidney damage with onset that ranges from infancy to adolescence. This tissue damage is lethal but can be controlled by administration of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedion (NTBC), which inhibits tyrosine catabolism upstream of the generation of fumarylacetoacetate and succinylacetone...
January 4, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27924409/antioxidants-reverse-the-changes-in-energy-metabolism-of-rat-brain-after-chronic-administration-of-l-tyrosine
#12
Brena P Teodorak, Giselli Scaini, Milena Carvalho-Silva, Lara M Gomes, Letícia J Teixeira, Joyce Rebelo, Samira D T De Prá, Neila Zeni, Patrícia F Schuck, Gustavo C Ferreira, Emilio L Streck
Tyrosinemia type II is a rare autosomal recessive disease caused by deficiency of hepatic tyrosine aminotransferase and is associated with neurologic and development difficulties in numerous patients. Considering that the mechanisms underlying the neurological dysfunction in hypertyrosinemic patients are poorly known and that high concentrations of tyrosine provoke mitochondrial dysfunction and oxidative stress, in the present study we investigated the in vivo influence of antioxidants (N-acetylcysteine, NAC; and deferoxamine, DFX) administration on the inhibitory effects on parameters of energy metabolism in cerebral cortex, hippocampus and striatum of rats, provoked by chronic administration of L...
April 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/27898518/tyrosinemia-presenting-with-multiple-hepatic-lesions-and-splenomegaly
#13
Anahita Sanaei Dashti, Seyedeh Sedigheh Hamzavi
No abstract text is available yet for this article.
November 28, 2016: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/27876694/hypersuccinylacetonaemia-and-normal-liver-function-in-maleylacetoacetate-isomerase-deficiency
#14
Hao Yang, Walla Al-Hertani, Denis Cyr, Rachel Laframboise, Guy Parizeault, Shu Pei Wang, Francis Rossignol, Marie-Thérèse Berthier, Yves Giguère, Paula J Waters, Grant A Mitchell
BACKGROUND: A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening marker for hepatorenal tyrosinemia type 1 (HT1, MIM 276700) caused by deficiency of fumarylacetoacetate hydrolase (FAH). Newborns with HT1 are usually clinically asymptomatic but show liver dysfunction with coagulation abnormalities (prolonged prothrombin time and/or high international normalised ratio). Early treatment with nitisinone (NTBC) plus dietary restriction of tyrosine and phenylalanine prevents the complications of severe liver disease and neurological crises...
April 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27855279/chronic-phenotype-characterization-of-a-large-animal-model-of-hereditary-tyrosinemia-type-1
#15
Faysal Elgilani, Shennen A Mao, Jaime M Glorioso, Meng Yin, Ianko D Iankov, Anisha Singh, Bruce Amiot, Piero Rinaldo, Ronald J Marler, Richard L Ehman, Markus Grompe, Joseph B Lillegard, Raymond D Hickey, Scott L Nyberg
Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by deficiency in fumarylacetoacetate hydrolase, the last enzyme in the tyrosine catabolic pathway. In this study, we investigated whether fumarylacetoacetate hydrolase deficient (FAH(-/-)) pigs, a novel large-animal model of HT1, develop fibrosis and cirrhosis characteristic of the human disease. FAH(-/-) pigs were treated with the protective drug 2-(2-nitro-4-trifluoromethylbenzoyl)-1, 3 cyclohexandione (NTBC) at a dose of 1 mg/kg per day initially after birth...
January 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/27835797/designing-medical-foods-for-inherited-metabolic-disorders-why-intact-protein-is-superior-to-amino-acids
#16
REVIEW
Denise Marie Ney, Mark Raymond Etzel
Phenylketonuria and tyrosinemia are inherited metabolic disorders characterized by high blood levels of phenylalanine (Phe) or tyrosine (Tyr), due to mutations in genes affecting Phe and Tyr metabolism, respectively. The primary management is a lifelong diet restricted in protein from natural foods in combination with medical foods comprised mixtures of synthetic amino acids. Compliance is often poor after childhood leading to neuropsychological sequela. Glycomacropeptide, an intact 64 amino acid glycophosphopeptide isolated from cheese whey, provides a new paradigm for the management of phenylketonuria and tyrosinemia because glycomacropeptide contains no Phe and Tyr in its pure form, and is also a prebiotic...
November 8, 2016: Current Opinion in Biotechnology
https://www.readbyqxmd.com/read/27832414/herpetiform-keratitis-and-palmoplantar-hyperkeratosis-warning-signs-for-richner-hanhart-syndrome
#17
Diogo C Soares, Mariana N Stroparo, Yu C Lian, Cristina Y Takakura, Sabrina Wolf, Regina Betz, Chong A Kim
Richner-Hanhart syndrome (RHS, tyrosinemia type II) is a rare, autosomal recessive inborn error of tyrosine metabolism caused by tyrosine aminotransferase deficiency. It is characterized by photophobia due to keratitis, painful palmoplantar hyperkeratosis, variable mental retardation, and elevated serum tyrosine levels. Patients are often misdiagnosed with herpes simplex keratitis. We report on a a boy from Brazil who presented with bilateral keratitis secondary to RHS, which had earlier been misdiagnosed as herpes simplex keratitis...
November 10, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27784639/gas-chromatography-mass-spectrometry-based-urine-metabolome-study-in-children-for-inborn-errors-of-metabolism-an-indian-experience
#18
Mahesh H Hampe, Shrimant N Panaskar, Ashwini A Yadav, Pramod W Ingale
OBJECTIVE: The present study highlights the feasibility of gas chromatography/mass spectrometry (GC/MS)-based analysis for simultaneous detection of >200 marker metabolites in urine found in characteristic pattern in inborn errors of metabolism (IEM) in India. DESIGN AND METHODS: During this retrospective study conducted from July 2013 to January 2016, we collected urine specimens on filter papers from Indian children across the country along with relevant demographic and clinical data...
February 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/27730080/demographic-and-clinical-characteristics-of-the-children-with-aminoacidopathy-in-isfahan-province-central-iran-in-2007-2015
#19
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
https://www.readbyqxmd.com/read/27723922/hepatocellular-carcinoma-referral-to-a-transplantation-unit
#20
Paloma Triana, Mariela Dore, Martha Muñoz Romo, Javier Jimenez Gomez, Alba Sánchez Galán, Francisco Hernandez, Ane M Andres Moreno, Jose Luis Encinas, Leopoldo Martinez, Manuel Lopez Santamaria
Aim Hepatocellular carcinoma (HCC), although being infrequent, is the second-most common primary hepatic malignancy in children, after hepatoblastoma (HB). The prognosis is very poor. We present our series of children with HCC referred to our transplant unit to be assessed as candidates for liver transplantation (LT). Methods A retrospective review of HCCs referred to our transplant unit in the past 20 years (1994-2015) was performed. Age at diagnosis, disease-free survival, location of recurrence, initial treatment, secondary treatment, and mortality were noted...
February 2017: European Journal of Pediatric Surgery
keyword
keyword
11452
1
2
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"