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Biotinidase deficiency

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https://www.readbyqxmd.com/read/28682309/laboratory-diagnosis-of-biotinidase-deficiency-2017-update-a-technical-standard-and-guideline-of-the-american-college-of-medical-genetics-and-genomics
#1
Erin T Strovel, Tina M Cowan, Anna I Scott, Barry Wolf
Disclaimer: These ACMG Standards and Guidelines are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards and Guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen...
July 6, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28653700/corrigendum-to-first-contiguous-gene-deletion-causing-biotinidase-deficiency-the-enzyme-deficiency-in-three-sri-lankan-children-mol-genet-metab-rep-2-2016-81-84
#2
Danika Nadeen Senanayake, Eresha A Jasinge, Kirit Pindolia, Jithangi Wanigasinghe, Kristin Monaghan, Sharon F Suchy, Sainan Wei, Subashini Jaysena, Barry Wolf
[This corrects the article DOI: 10.1016/j.ymgmr.2015.01.005.].
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28640880/correction-biotinidase-deficiency-genotype-biochemical-phenotype-association-in-brazilian-patients
#3
Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E Lima, Maria R S Carvalho, Pablo A S Fonseca, José S Camelo, Erlane M Ribeiro, Paula F V de Medeiros, Charles M Lourenço, Carolina F M de Souza, Raquel Boy, Têmis M Félix, Camila M Bittar, Louise L C Pinto, Eurico C Neto, Henk J Blom, Ida V D Schwartz
[This corrects the article DOI: 10.1371/journal.pone.0177503.].
2017: PloS One
https://www.readbyqxmd.com/read/28586590/diagnostic-dilemma-of-biotinidase-deficiency-case-of-a-child-from-pakistan
#4
Maria Shoaib, Ahmad Faraz, Syed Ahsanuddin Ahmed, Marium Jamil, Zobia Aijaz
Biotinidase deficiency is an autosomal recessive in born error of metabolism which is characterized by the lack of cleavage of biotin. This disease has been reported very rarely with the incidence found to be 1 per 60,089 and 1 per 112,271 of live births, respectively. This condition has profound effects on the neurological system, various neurocutaneous manifestations and metabolic derangements. We report a case of 3-year-old male child who presented in ER with severe respiratory distress for 1 day in a tertiary care set up...
October 2016: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28516283/developmental-window-of-sensorineural-deafness-in-biotinidase-deficient-mice
#5
Kathleen June Maheras, Kirit Pindolia, Barry Wolf, Alexander Gow
Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin, biotin. If untreated, the disorder can result in a range of neurological and cutaneous symptoms, including sensorineural deficits and deafness. To understand early mechanistic abnormalities that may precede more generalized and nonspecific effects of metabolic deficits such as weight loss and acidosis, we have analyzed auditory brainstem responses (ABRs) in biotinidase-deficient knockout (Btd (-/-) ) mice in the periweaning period with or without dietary biotin supplementation...
May 17, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28498829/biotinidase-deficiency-genotype-biochemical-phenotype-association-in-brazilian-patients
#6
Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E Lima, Maria R S Carvalho, Pablo A S Fonseca, José S Camelo, Erlane M Ribeiro, Paula F V de Medeiros, Charles M Lourenço, Carolina F M de Souza, Raquel Boy, Têmis M Félix, Camila M Bittar, Louise L C Pinto, Eurico C Neto, Henk J Blom, Ida V D Schwartz
INTRODUCTION: The association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always consistent. This study aimed to investigate the genotype-biochemical phenotype association in patients with low biotinidase activity. METHODS: All exons, the 5'UTR and the promoter of the BTD gene were sequenced in 72 Brazilian individuals who exhibited low biotinidase activity. For each patient, the expected biochemical phenotype based on the known genotype was compared with the observed biochemical phenotype...
2017: PloS One
https://www.readbyqxmd.com/read/28337934/reply-to-the-letter-biotinidase-deficiency-masquerading-as-multiple-sclerosis
#7
Ayman Tourbah, Frédéric Sedel
No abstract text is available yet for this article.
March 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28337933/biotinidase-deficiency-masquerading-as-multiple-sclerosis
#8
Barry Wolf
No abstract text is available yet for this article.
March 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28281033/a-treatable-cause-of-myelopathy-and-vision-loss-mimicking-neuromyelitis-optica-spectrum-disorder-late-onset-biotinidase-deficiency
#9
Sanem Yilmaz, Mine Serin, Ebru Canda, Cenk Eraslan, Hande Tekin, Sema Kalkan Ucar, Sarenur Gokben, Hasan Tekgul, Gul Serdaroglu
Biotinidase deficiency is characterized by severe neurological manifestations as hypotonia, lethargy, ataxia, hearing loss, seizures and developmental retardation in its classical form. Late-onset biotinidase deficiency presents distinctly from the classical form such as limb weakness and vision problems. A 14-year-old boy presented with progressive vision loss and upper limb weakness. The patient was initiated steroid therapy with a preliminary diagnosis of neuromyelitis optica spectrum disorder due to the craniospinal imaging findings demonstrating optic nerve, brainstem and longitudinally extensive spinal cord involvement...
June 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28220409/irreversibility-of-symptoms-with-biotin-therapy-in-an-adult-with-profound-biotinidase-deficiency
#10
Patrick Ferreira, Alicia Chan, Barry Wolf
We report a 36-year-old woman who exhibited progressive optic atrophy at 13 years old, then stroke-like episodes and spastic diplegia in her 20s. Biotinidase deficiency was not readily considered in the differential diagnosis, and the definitive diagnosis was not made until pathological variants of the biotinidase gene (BTD) were found by exome sequencing. Profound biotinidase deficiency was confirmed by enzyme analysis. Unfortunately, her symptoms did not resolve or improve with biotin treatment. Biotin therapy is essential for all individuals with profound biotinidase deficiency and for preventing further damage in those who already exhibit irreversible neurological damage...
February 21, 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
#11
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/27845546/clinical-biochemical-and-genetic-analysis-of-biotinidase-deficiency-in-iranian-population
#12
Arezou Asgari, Soghra Rouhi Dehnabeh, Mehryar Zargari, Soghra Khani, Hadi Mozafari, Abdolreza Varasteh, Fatemeh Keyfi, Mina Barzegari, Rayhaneh Hasanzaeh, Shohreh Khatami
BACKGROUND: Biotinidase deficiency (BTD) is an autosomal recessive disorder of biotin metabolism. Biotin is a coenzyme that enhances the action of the four enzymes that play an important role in carbohydrates, amino acid, and fatty acid metabolism. Defects in these pathways cause severe metabolic disorder in the body. In general, biotinidase deficiency can be classified into two levels: partial and profound. The incidence of BTD is 1:40,000 to 1:60,000 births in the world, even though no convincing statistical data on the prevalence of this disorder exist in Iran...
November 2016: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/27761288/a-case-of-biotinidase-deficiency-in-an-adult-with-respiratory-failure-in-the-intensive-care-unit
#13
Zerrin Demirtürk, Evren Şentürk, Abbas Köse, Perihan Ergin Özcan, Lütfi Telci
BACKGROUND: Biotinidase deficiency (BD) is a rare, inherited autosomal recessive disorder that is treatable within childhood. We present a patient with pneumonia and respiratory acidosis who was not diagnosed with any systemic disorders; the patient was finally diagnosed as BD. CASE REPORT: A thirty-year-old woman was admitted to the emergency department with respiratory failure that had persisted for a few days and progressively weakening over the previous six months...
September 2016: Balkan Medical Journal
https://www.readbyqxmd.com/read/27752475/differential-gene-expression-during-early-development-in-brains-of-wildtype-and-biotinidase-deficient-mice
#14
Christian Brigolin, Nathan McKenty, Kirit Pindolia, Barry Wolf
Biotinidase deficiency is an autosomal recessively inherited disorder characterized by neurological and cutaneous abnormalities. Untreated individuals with biotinidase deficiency cannot recycle biotin from biocytin (N-biotinyl-ϵ-lysine), the proteolytic digestion product of protein-bound biotin. Biotin therapy can markedly resolve symptoms, or can prevent the development of symptoms if initiated early. To understand better the pathogenesis of the neurological problems in the disorder in humans, we have compared gene transcription changes during the first week post-birth in the brains of biotinidase-deficient, transgenic, knock-out mice at days 1 and 8 and compared to changes in wildtype mice at the same times...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27450367/leigh-like-syndrome-due-to-homoplasmic-m-8993t-g-variant-with-hypocitrullinemia-and-unusual-biochemical-features-suggestive-of-multiple-carboxylase-deficiency-mcd
#15
Shanti Balasubramaniam, B Lewis, D M Mock, H M Said, M Tarailo-Graovac, A Mattman, C D van Karnebeek, D R Thorburn, R J Rodenburg, J Christodoulou
Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, is a genetically heterogeneous, relentlessly progressive, devastating neurodegenerative disorder that usually presents in infancy or early childhood. A diagnosis of Leigh-like syndrome may be considered in individuals who do not fulfil the stringent diagnostic criteria but have features resembling Leigh syndrome.We describe a unique presentation of Leigh-like syndrome in a 3-year-old boy with elevated 3-hydroxyisovalerylcarnitine (C5-OH) on newborn screening (NBS)...
2017: JIMD Reports
https://www.readbyqxmd.com/read/27329734/neonatal-screening-for-profound-biotinidase-deficiency-in-the-netherlands-consequences-and-considerations
#16
Rachel C Wiltink, Michelle E Kruijshaar, Rick van Minkelen, Willem Onkenhout, Frans W Verheijen, Evelien A Kemper, Francjan J van Spronsen, Ans T van der Ploeg, Klary E Niezen-Koning, Jasper J Saris, Monique Williams
Biotinidase deficiency is a rare inherited metabolic disorder that can cause severe neurological symptoms. To prevent severe clinical presentations, it was included in the Dutch neonatal screening programme in 2007. Since then the number of cases detected has been high. This study set out to describe the incidence of the disease, the clinical and demographic characteristics of the neonates identified and the type of mutations found. In the south-western Netherlands, 304 982 neonates were screened between 2007 and 2012; and 92 were identified for further testing...
October 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27271814/subcortical-dnet-in-a-patient-with-an-enzymatic-deficiency-a-rare-case-and-review-of-the-literature
#17
Libby K Infinger, Samir R Karia, Stephen L Kinsman, Edward J Kosnik, Cynthia T Welsh, Donna R Roberts, Amy-Lee Bredlau
PURPOSE: This case report describes a toddler with a medical history of biotinidase deficiency who presented with atypical seizures due to a brain tumor. METHODS: This is a case report. RESULTS: Electroencephalogram revealed a frontal lobe mass, with magnetic resonance imaging confirmation of a mass extending from the frontal lobe into the genu and anterior corpus callosum. She underwent a near-total resection, and pathology identified a dysembryoplastic neuroepithelial tumor...
November 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27264091/effects-of-biotin-deficiency-on-biotinylated-proteins-and-biotin-related-genes-in-the-rat-brain
#18
Masahiro Yuasa, Yuki Aoyama, Ryoko Shimada, Hiromi Sawamura, Shuhei Ebara, Munetaka Negoro, Toru Fukui, Toshiaki Watanabe
Biotin is a water-soluble vitamin that functions as a cofactor for biotin-dependent carboxylases. The biochemical and physiological roles of biotin in brain regions have not yet been investigated sufficiently in vivo. Thus, in order to clarify the function of biotin in the brain, we herein examined biotin contents, biotinylated protein expression (e.g. holocarboxylases), and biotin-related gene expression in the brain of biotin-deficient rats. Three-week-old male Wistar rats were divided into a control group, biotin-deficient group, and pair-fed group...
2016: Journal of Nutritional Science and Vitaminology
https://www.readbyqxmd.com/read/27240052/-the-criteria-of-early-detection-of-biotinidase-deficiency-based-epilepsy
#19
A G Malov, E S Vasileva, E B Serebrennikova
OBJECTIVE: An analysis of clinical and paraclinical symptomatology of three cases of infant epilepsy due to biotinidase deficiency is presented. MATERIAL AND METHODS: The diagnosis took 4 months in the first case and 1 day in the last one. RESULTS AND CONCLUSION: It is emphasized that early diagnosisbased on knowing the reference signs of this inherited metabolic disease provides an opportunity to avoid patient's disability or death.
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27207447/biotinidase-deficiency-mimicking-neuromyelitis-optica-beginning-at-the-age-of-4-a-treatable-disease
#20
Barbara Girard, Chrystèle Bonnemains, Emmanuelle Schmitt, Emmanuel Raffo, Claire Bilbault
BACKGROUND: Metabolic and inflammatory conditions may lead to neurological disorders. Neuromyelitis optica spectrum disorders (NMOSDs) refer to a rare group of demyelinating diseases of the central nervous system which essentially involve the optic nerves and spinal cord. METHODS: We report a case of biotinidase deficiency (BD) initially misdiagnosed as NMOSD in a pediatric patient. RESULTS: An 8-year-old girl was initially diagnosed with NMOSD on the basis of optic neuritis (ON) associated with three episodes of longitudinally extensive transverse myelitis (LETM)...
January 2017: Multiple Sclerosis: Clinical and Laboratory Research
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