keyword
MENU ▼
Read by QxMD icon Read
search

Tyrosinemia

keyword
https://www.readbyqxmd.com/read/27924409/antioxidants-reverse-the-changes-in-energy-metabolism-of-rat-brain-after-chronic-administration-of-l-tyrosine
#1
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...
December 6, 2016: Metabolic Brain Disease
https://www.readbyqxmd.com/read/27898518/tyrosinemia-presenting-with-multiple-hepatic-lesions-and-splenomegaly
#2
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
#3
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...
November 22, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27855279/chronic-phenotype-characterization-of-a-large-animal-model-of-hereditary-tyrosinemia-type-1
#4
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...
November 14, 2016: 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
#5
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
#6
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
#7
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...
October 23, 2016: 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
#8
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
#9
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...
October 10, 2016: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27701365/in-brief-nitisinone-orfadin-for-hereditary-tyrosinemia
#10
(no author information available yet)
No abstract text is available yet for this article.
October 10, 2016: Medical Letter on Drugs and Therapeutics
https://www.readbyqxmd.com/read/27682708/the-outcome-of-seven-patients-with-hereditary-tyrosinemia-type-1
#11
Songul Gokay, Pembe Soylu Ustkoyuncu, Fatih Kardas, Mustafa Kendirci
BACKGROUND: Hereditary tyrosinemia type 1 (HT1) is a rare, inborn error of tyrosine metabolism. It is a fatal disorder without treatment. Early treatment may prevent acute liver failure, renal dysfunction, liver cirrhosis, hepatocellular carcinoma (HCC) and improves survival. The aim of the present study is to describe the clinical, biochemical, imaging and follow-up of seven patients with HT1 and to define the consequences of the late and interrupted treatment. METHODS: A retrospective study was carried out with seven HT1 patients...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27669419/thermal-profiling-reveals-phenylalanine-hydroxylase-as-an-off-target-of-panobinostat
#12
Isabelle Becher, Thilo Werner, Carola Doce, Esther A Zaal, Ina Tögel, Crystal A Khan, Anne Rueger, Marcel Muelbaier, Elsa Salzer, Celia R Berkers, Paul F Fitzpatrick, Marcus Bantscheff, Mikhail M Savitski
We describe a two-dimensional thermal proteome profiling strategy that can be combined with an orthogonal chemoproteomics approach to enable comprehensive target profiling of the marketed histone deacetylase inhibitor panobinostat. The N-hydroxycinnamide moiety is identified as critical for potent and tetrahydrobiopterin-competitive inhibition of phenylalanine hydroxylase leading to increases in phenylalanine and decreases in tyrosine levels. These findings provide a rationale for adverse clinical observations and suggest repurposing of the drug for treatment of tyrosinemia...
September 26, 2016: Nature Chemical Biology
https://www.readbyqxmd.com/read/27510266/efficient-liver-repopulation-of-transplanted-hepatocyte-prevents-cirrhosis-in-a-rat-model-of-hereditary-tyrosinemia-type-i
#13
Ludi Zhang, Yanjiao Shao, Lu Li, Feng Tian, Jin Cen, Xiaotao Chen, Dan Hu, Yan Zhou, Weifen Xie, Yunwen Zheng, Yuan Ji, Mingyao Liu, Dali Li, Lijian Hui
Hereditary tyrosinemia type I (HT1) is caused by a deficiency in the enzyme fumarylacetoacetate hydrolase (Fah). Fah-deficient mice and pigs are phenotypically analogous to human HT1, but do not recapitulate all the chronic features of the human disorder, especially liver fibrosis and cirrhosis. Rats as an important model organism for biomedical research have many advantages over other animal models. Genome engineering in rats is limited till the availability of new gene editing technologies. Using the recently developed CRISPR/Cas9 technique, we generated Fah(-/-) rats...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27487552/a-novel-homozygous-mutation-causing-hereditary-tyrosinemia-type-i-in-yakut-patient-in-russia-case-report
#14
Nadezda R Maksimova, Elizaveta E Gurinova, Aitalina L Sukhomyasova, Anastasia L Danilova, Vladimir S Kaimonov, Mira T Savvina, Aleksandra E Yakovleva, Elena I Alekseeva
INTRODUCTION: Tyrosinemia type 1 (HT1) (OM IM 276700) is an inborn error of tyrosine catabolism caused be fumarylacetoacetate hedralase deficiency (FAH). In tyrosinemia type I, dietary therapy and nitisinone (Orfandin®), liver transplantation are effective . AIM: We present here the first report on identification of FAH mutation in HT1 Yakut patient from Russia with a novel one. MATERIAL AND METHODS: The material for the clinical study is based on the genetic data of the patient card with tyrosinemia type 1, which is observed in the medical-genetic consultations Republican Hospital №1-National Medical Center of the Republic of Sakha (Yakutia)...
2016: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/27476595/tyrosine-detoxification-is-an-essential-trait-in-the-life-history-of-blood-feeding-arthropods
#15
Marcos Sterkel, Hugo D Perdomo, Melina G Guizzo, Ana Beatriz F Barletta, Rodrigo D Nunes, Felipe A Dias, Marcos H F Sorgine, Pedro L Oliveira
Blood-feeding arthropods are vectors of infectious diseases such as dengue, Zika, Chagas disease, and malaria [1], and vector control is essential to limiting disease spread. Because these arthropods ingest very large amounts of blood, a protein-rich meal, huge amounts of amino acids are produced during digestion. Previous work on Rhodnius prolixus, a vector of Chagas disease, showed that, among all amino acids, only tyrosine degradation enzymes were overexpressed in the midgut compared to other tissues [2]...
August 22, 2016: Current Biology: CB
https://www.readbyqxmd.com/read/27464750/curative-ex-vivo-liver-directed-gene-therapy-in-a-pig-model-of-hereditary-tyrosinemia-type-1
#16
Raymond D Hickey, Shennen A Mao, Jaime Glorioso, Faysal Elgilani, Bruce Amiot, Harvey Chen, Piero Rinaldo, Ronald Marler, Huailei Jiang, Timothy R DeGrado, Lukkana Suksanpaisan, Michael K O'Connor, Brittany L Freeman, Samar H Ibrahim, Kah Whye Peng, Cary O Harding, Chak-Sum Ho, Markus Grompe, Yasuhiro Ikeda, Joseph B Lillegard, Stephen J Russell, Scott L Nyberg
We tested the hypothesis that ex vivo hepatocyte gene therapy can correct the metabolic disorder in fumarylacetoacetate hydrolase-deficient (Fah(-/-)) pigs, a large animal model of hereditary tyrosinemia type 1 (HT1). Recipient Fah(-/-) pigs underwent partial liver resection and hepatocyte isolation by collagenase digestion. Hepatocytes were transduced with one or both of the lentiviral vectors expressing the therapeutic Fah and the reporter sodium-iodide symporter (Nis) genes under control of the thyroxine-binding globulin promoter...
July 27, 2016: Science Translational Medicine
https://www.readbyqxmd.com/read/27397503/silent-tyrosinemia-type-i-without-elevated-tyrosine-or-succinylacetone-associated-with-liver-cirrhosis-and-hepatocellular-carcinoma
#17
Patrick R Blackburn, Raymond D Hickey, Rebecca A Nace, Nasra H Giama, Daniel L Kraft, Andrew J Bordner, Roongruedee Chaiteerakij, Jennifer B McCormick, Maja Radulovic, Rondell P Graham, Michael S Torbenson, Silvia Tortorelli, C Ronald Scott, Noralane M Lindor, Dawn S Milliner, Devin Oglesbee, Wafa'a Al-Qabandi, Markus Grompe, Dimitar K Gavrilov, Mounif El-Youssef, Karl J Clark, Paldeep S Atwal, Lewis R Roberts, Eric W Klee, Stephen C Ekker
Tyrosinemia type I (TYRSN1, TYR I) is caused by fumarylacetoacetate hydrolase (FAH) deficiency and affects approximately one in 100,000 individuals worldwide. Pathogenic variants in FAH cause TYRSN1, which induces cirrhosis and can progress to hepatocellular carcinoma (HCC). TYRSN1 is characterized by the production of a pathognomonic metabolite, succinylacetone (SUAC) and is included in the Recommended Uniform Screening Panel for newborns. Treatment intervention is effective if initiated within the first month of life...
October 2016: Human Mutation
https://www.readbyqxmd.com/read/27395834/metabolic-liver-diseases-presenting-as-acute-liver-failure-in-children
#18
Seema Alam, Bikrant Bihari Lal
CONTEXT: Suspecting metabolic liver disease in an infant or young child with acute liver failure, and a protocol-based workup for diagnosis is the need of the hour. EVIDENCE ACQUISITION: Data over the last 15 years was searched through Pubmed using the keywords Metabolic liver disease and Acute liver failure with emphasis on Indian perspective. Those published in English language where full text was retrievable were included for this review. RESULTS: Metabolic liver diseases account for 13-43% cases of acute liver failure in infants and young children...
August 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27392999/pediatric-hepatocellular-carcinoma-in-a-developing-country-is-the-etiology-changing
#19
Kumar Palaniappan, Vibhor V Borkar, Mohamed Safwan, Mukul Vij, Sanjay Govil, Naresh Shanmugam, Mohamed Rela
HCC is the second most common malignant liver tumor of childhood. It typically affects children with a median age of 10-14 yr on background hepatitis B-related liver disease and is often metastatic or locally advanced at diagnosis. Children below the age of five yr typically constitute <10% of all children with HCC. In these children, it occurs on a background of congenital or metabolic liver disease. The records of all children with HCC who presented to our department over a six-yr study period were reviewed...
July 8, 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/27356512/neurocognitive-outcome-in-tyrosinemia-type-1-patients-compared-to-healthy-controls
#20
Willem G van Ginkel, Rianne Jahja, Stephan C J Huijbregts, Anne Daly, Anita MacDonald, Corinne De Laet, David Cassiman, François Eyskens, Irene M L W Körver-Keularts, Philippe J Goyens, Patrick J McKiernan, Francjan J van Spronsen
BACKGROUND: Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disorder caused by a defect in the enzyme Fumarylacetoacetate Hydrolase. Due to this defect, toxic products accumulate which, in turn, cause liver and kidney dysfunction. Treatment with 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) and diet has diminished these problems, but recent data indicate that HT1 patients have neurocognitive problems. However, the neuropsychological profile of these patients is unknown...
2016: Orphanet Journal of Rare Diseases
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"