Audiologic findings in children with biotinidase deficiency in Turkey

Genç, Gülsüm Aydan; Sivri-Kalkanoğlu, H.S.; Dursun, Ali; Aydin, Halil; Tokatlı, Ayşegül; Sennaroḡlu, Levent; Belgi̇n, Erol; Wolf, Barry; Coşkun, Turgay

doi:10.1016/j.ijporl.2006.11.001

Cited by 19 publications

(14 citation statements)

References 14 publications

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“…The commonest neurological, cutaneous and biochemical manifestations were: seizure (9/10); alopecia (9/10); organic aciduria (4/6). This observation has been seen previously in various ethnic populations and in case reports from India [8][9][10][11][12]. Iranian case series found that seizures (13/16), alopecia (8/16), abnormal auditory brainstem response (4/16), abnormal lactate and ammonia (8/16) were the common manifestations [13].…”

Section: Discussionsupporting

confidence: 78%

“…The most important marker of disease control was cessation of seizure activity. The most important long term complication in late onset group cases was irreversible sensorineural hearing loss as previously reported by Genc et al, [10]. This may be attributed to, lack of suspicion on part of clinicians, delay in early diagnosis, lack of appropriate facilities for enzyme assay, affordability or related to genotype as stated by Sivri [14].…”

Section: Discussionmentioning

confidence: 69%

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Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India

Singh

Lomash

Pandey

et al. 2015

JCDR

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Section: Discussionsupporting

confidence: 78%

Section: Discussionmentioning

confidence: 69%

Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India

Singh

Lomash

Pandey

et al. 2015

JCDR

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“…7-10,13,22-24 Therefore, we assumed that BD cases detected The probabilities of exhibiting symptoms in cases not detected by NBS are based on meta-analyzing the evidence from identified case series studies. 6,8,22,[25][26][27][28][29][30] The probabilities of each outcome are presented in Table 1, including death, seizures, hypotonia, skin problems, cognitive deficits, optic atrophy, and hearing loss (see Supplemental Information for more details). The base case analysis assumes, conservatively, that only profound cases experience clinical complications, whereas in a separate analysis we allow for partial BD cases to also exhibit some of the features that have been documented in the literature among these patients (ie, seizures, skin problems, hearing loss, and cognitive deficits).…”

Section: Overviewmentioning

confidence: 99%

“…Some children might manifest only a single feature, whereas others exhibit a full spectrum of findings. 1,3,4,6 Most children with untreated profound deficiency experience the clinical symptoms of BD. Children with partial BD may exhibit any of the aforementioned features, but usually the symptoms are milder and occur only under metabolic stress.…”

Section: What This Study Addsmentioning

confidence: 99%

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Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency

et al. 2015

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BACKGROUND AND OBJECTIVES: There are conflicting views as to whether testing for biotinidase deficiency (BD) ought to be incorporated into universal newborn screening (NBS) programs. The aim of this study was to evaluate the cost-effectiveness of adding BD to the panel of conditions currently screened under the national NBS program in Spain. METHODS:We used information from the regional NBS program for BD that has been in place in the Spanish region of Galicia since 1987. These data, along with other sources, were used to develop a cost-effectiveness decision model that compared lifetime costs and health outcomes of a national birth cohort of newborns with and without an early detection program. The analysis took the perspective of the Spanish National Health Service. Effectiveness was measured in terms of quality-adjusted life years (QALYs). We undertook extensive sensitivity analyses around the main model assumptions, including a probabilistic sensitivity analysis. RESULTS:In the base case analysis, NBS for BD led to higher QALYs and higher health care costs, with an estimated incremental cost per QALY gained of $24 677. Lower costs per QALY gained were found when conservative assumptions were relaxed, yielding cost savings in some scenarios. The probability that BD screening was cost-effective was estimated to be .70% in the base case at a standard threshold value.CONCLUSIONS: This study indicates that NBS for BD is likely to be a cost-effective use of resources. WHAT'S KNOWN ON THIS SUBJECT:Biotinidase deficiency (BD) might cause severe and permanent consequences. Cases detected through newborn screening and under treatment are shown to remain asymptomatic. However, some countries, including Spain, do not provide universal BD screening within their national newborn screening programs. WHAT THIS STUDY ADDS:It provides a first estimate of the lifetime costs and health outcomes of a Spanish birth cohort with and without neonatal screening for BD. It shows that newborn screening for BD is likely to be a costeffective use of resources. Dr Vallejo-Torres participated in the concept and design of the study and in the collection, analysis, and interpretation of data and drafted and revised the manuscript; Dr Castilla participated in the design of the study and in the collection and interpretation of data and revised the manuscript; Drs Couce, Pérez-Cerdá, Martín-Hernández, Pineda, and Campistol participated in the concept and design of the study and in the collection and interpretation of data and revised the manuscript; Ms Arrospide and Dr Morris participated in the concept and design of the study and in the analysis and interpretation of data and revised the manuscript; Dr Serrano-Aguilar coordinated the research team and critically reviewed the manuscript; and all authors approved the final manuscript as submitted. In Spain, only 2 regions (Galicia, since 1987, and Murcia, since 2007) include BD in their regional newborn screening (NBS) programs. Currently, the Spanish Ministry of Health, Social Servi...

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Nutritional Disorders Affecting the Skin

Chu

Jen

Yan

2016

Rook's Textbook of Dermatology, Ninth Edition

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Balanced intake, absorption and utilization of macro‐ and micronutrients, including carbohydrates, protein, fat, vitamins and minerals, are necessary for the function of various physiological processes and metabolic reactions. Derangements in this critical balance may lead to disease states with significant cutaneous and systemic manifestations. This chapter provides a comprehensive overview of various essential nutrients and their associated biological significance, as well as the important clinical syndromes that result from their deficiency or excess.

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Audiologic findings in children with biotinidase deficiency in Turkey

Cited by 19 publications

References 14 publications

Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India

Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India

Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency

Nutritional Disorders Affecting the Skin

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