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Biotinidase deficiency

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https://www.readbyqxmd.com/read/27845546/clinical-biochemical-and-genetic-analysis-of-biotinidase-deficiency-in-iranian-population
#1
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
#2
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
#3
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
#4
Shanti Balasubramaniam, B Lewis, D M Mock, H M Said, M Tarailo-Graovac, A Mattman, C D van Karneebek, 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)...
July 22, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27329734/neonatal-screening-for-profound-biotinidase-deficiency-in-the-netherlands-consequences-and-considerations
#5
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
#6
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
#7
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
#8
A G Malov, E S Vasil'eva, 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
#9
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)...
May 6, 2016: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/27144235/auditory-neuropathy-dyssynchrony-in-biotinidase-deficiency
#10
Hossein Talebi, Omid Yaghini
Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of hearing loss and optic atrophy in addition to seizures, hypotonia, and ataxia. In the present study, a 2-year-old boy with Biotinidase deficiency is presented in which clinical symptoms have been reported with auditory neuropathy/auditory dyssynchrony (AN/AD). In this case, transient-evoked otoacoustic emissions showed bilaterally normal responses representing normal function of outer hair cells. In contrast, acoustic reflex test showed absent reflexes bilaterally, and visual reinforcement audiometry and auditory brainstem responses indicated severe to profound hearing loss in both ears...
April 2016: Journal of Audiology & Otology
https://www.readbyqxmd.com/read/27014582/first-microdeletion-involving-only-the-biotinidase-gene-that-can-cause-biotinidase-deficiency-a-lesson-for-clinical-practice
#11
Barry Wolf
We report the first microdeletion (26 kb) of the biotinidase gene (BTD) that involves three of the four exons of the gene. This deletion further exemplifies the importance of performing microarray analysis or other methodologies for a deletion of the BTD gene when the enzymatic activity indicates lower activity than can be attributed to the mutations identified by DNA sequencing.
March 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/26830281/celiac-disease-presenting-with-biotinidase-deficiency-and-paraplegia
#12
LETTER
Sahin Erdol, Halil Saglam, Tanju Ozkan Basarır, Mehmet Sait Okan
No abstract text is available yet for this article.
June 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/26816961/clinical-biochemical-and-outcome-profile-of-biotinidase-deficient-patients-from-tertiary-centre-in-northern-india
#13
Ankur Singh, Avinash Lomash, Sanjeev Pandey, Seema Kapoor
INTRODUCTION: Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1, 10,000 respectively. The carrier frequency in general population is 1 in 120. We attempt to study clinical, biochemical and outcome from 10 Biotinidase deficient patients. MATERIALS AND METHODS: A retrospective case record study was conducted to record Clinical, biochemical and outcome profile from genetic records...
December 2015: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/26810761/forty-eight-novel-mutations-causing-biotinidase-deficiency
#14
Melinda Procter, Barry Wolf, Rong Mao
Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin biotin and is characterized by neurological and cutaneous symptoms. The symptoms can be ameliorated or prevented by administering pharmacological doses of biotin. Since 2008, approximately 300 samples have been submitted to ARUP's Molecular Sequencing Laboratory for biotinidase mutation analysis. Of these, 48 novel alterations in the biotinidase gene have been identified. Correlating the individual's serum enzymatic activity with the genotype, we have been able to determine the effect of the novel alteration on enzyme activity and, thereby, determine its likelihood of being pathogenic in 44 of these individuals...
March 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/26656798/partial-biotinidase-deficiency-identification-of-a-single-novel-mutation-p-h314r-in-a-greek-newborn
#15
LETTER
Georgia Thodi, Kleopatra H Schulpis, Maria Hatzidaki, Elina Molou, Olga Triantafylli, Yannis Dotsikas, Yannis L Loukas
No abstract text is available yet for this article.
March 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/26456103/biotinidase-deficiency-and-our-champagne-legacy
#16
REVIEW
Barry Wolf
Biotinidase is the enzyme that is necessary for the recycling of the vitamin, biotin. Biotinidase deficiency is an autosomal recessively inherited metabolic disorder. If untreated, individuals with biotinidase deficiency usually develop neurological and cutaneous symptoms that can result in coma or death. Symptomatic individuals can be markedly improved by treating them with pharmacological doses of biotin; however, some clinical features may be irreversible. Fortunately, essentially all symptoms can be prevented if treatment is initiated at birth or before the symptoms develop...
September 10, 2016: Gene
https://www.readbyqxmd.com/read/26361991/biotinidase-deficiency-spectrum-of-molecular-enzymatic-and-clinical-information-from-newborn-screening-ontario-canada-2007-2014
#17
Srinitya Gannavarapu, Chitra Prasad, Jennifer DiRaimo, Melanie Napier, Sharan Goobie, Murray Potter, Pranesh Chakraborty, Maria Karaceper, Tatiana Munoz, Andreas Schulze, Jennifer MacKenzie, Lihua Li, Michael T Geraghty, Osama Y Al-Dirbashi, C Anthony Rupar
Untreated profound biotinidase deficiency results in a wide range of clinical features, including optic atrophy, cutaneous abnormalities, hearing loss and developmental delay. Ontario, Canada incorporated this treatable deficiency in newborn screening over the past 8years. This study elucidates the molecular, biochemical, and clinical findings from the pilot project. Information from initial screens, serum biotinidase activity level assays, molecular testing, and family history for 246 positive newborns screens were analyzed...
November 2015: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/26358973/biotinidase-deficiency-should-be-considered-in-individuals-exhibiting-myelopathy-with-or-without-and-vision-loss
#18
REVIEW
Barry Wolf
Multiple symptomatic children with biotinidase deficiency have exhibited spastic para- or tetraplegia due to myelopathy with and without vision loss. Although this has been a feature of what has been designated as delayed onset-biotinidase deficiency, myelopathy is likely also on the continuum of clinical features seen in younger children who have had these features attributed to dysfunction of the upper brain rather than of the spinal cord. Because many countries are still not screening their newborns for biotinidase deficiency, the disorder should be included in the differential diagnosis of individuals with myelopathic symptoms...
November 2015: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/26335232/newborn-screening-what-does-the-emergency-physician-need-to-know
#19
REVIEW
Lindsay Roofe Lavin, Nicholas Higby, Thomas Abramo
Newborn screening programs were established in the United States in the early 1960s. Newborn screening programs were then developed by states and have continued to be the responsibility of the state. All states require a newborn screening, but what is required of these programs and screening panels has differed greatly by state. Historically, the most commonly screened disorders are the following: congenital hypothyroidism, congenital adrenal hyperplasia, sickle cell disease and associated hemoglobinopathies, biotinidase deficiency, galactosemia, cystic fibrosis and phenylketonuria, maple syrup urine disease, and homocystinuria...
September 2015: Pediatric Emergency Care
https://www.readbyqxmd.com/read/26221165/biotinidase-deficiency-in-newborns-as-respiratory-distress-and-tachypnea-a-case-report
#20
Shahin Koohmanaee, Marjaneh Zarkesh, Manijeh Tabrizi, Afagh Hassanzadeh Rad, Siamak Divshali, Setila Dalili
OBJECTIVE: Biotin is a coenzyme composed of four carboxylases. It presents in amino acid catabolism, fatty acid synthesis, and gluconeogenesis. Biotinidase recycles the vitamin biotin. A biotinidase deficiency is a neurocutaneous disorder with autosomal recessive inheritance. The symptoms can be successfully treated or prevented by administering pharmacological doses of biotin. Although, according to neonatal prenatal medicine (2011), a biotinidase deficiency does not manifest during the neonatal period...
2015: Iranian Journal of Child Neurology
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