Diagnosis, treatment, follow‐up and gene mutation analysis in four Chinese children with biotinidase deficiency

Ye, J.; Wang, Tong; Han, Lianshu; Qiu, Wenjuan; Zhang, H. W.; Zhang, Y. F.; Gao, Xiaolan; Wang, Y.; Gu, Xuefan

doi:10.1007/s10545-009-1238-1

Cited by 16 publications

(13 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…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%

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

Singh

Lomash

Pandey

et al. 2015

JCDR

View full text Add to dashboard Cite

Section: Discussionsupporting

confidence: 78%

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

Singh

Lomash

Pandey

et al. 2015

JCDR

View full text Add to dashboard Cite

“…Some groups have analysed the initial portion of the BTD gene in patients with BD [31–34]. These studies observed a point variant in the promoter [32] and another in the 5’UTR [35].…”

Section: Discussionmentioning

confidence: 99%

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

et al. 2017

View full text Add to dashboard Cite

IntroductionThe 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.MethodsAll 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. Additional non-genetic factors that could affect the biotinidase activity were also analysed.ResultsMost individuals were identified by neonatal screening (n = 66/72). When consecutive results for the same patient were compared, age, prematurity and neonatal jaundice appeared to affect the level of biotinidase activity. The biochemical phenotype at the time of the second blood collection changed in 11/22 patients compared to results from the first sample. Three novel variants were found: c.1337T>C (p.L446P), c.1466A>G (p.N489S) and c.962G>A (p.W321*). Some patients with the same genotype presented different biochemical phenotypes. The expected and observed biochemical phenotypes agreed in 68.5% of cases (concordant patients). The non-coding variants c.-183G>A, c.-315A>G and c.-514C>T were present in heterozygosis in 5/17 discordant patients. In addition, c.-183G>A and c.-514C>T were also present in 10/37 concordant patients.ConclusionsThe variants found in the promoter region do not appear to have a strong impact on biotinidase activity. Since there is a disparity between the BTD genotype and biochemical phenotype, and biotinidase activity may be affected by both genetic and non-genetic factors, we suggest that the diagnosis of BD should be based on more than one measurement of plasma biotinidase activity. DNA analysis can be of additional relevance to differentiate between partial BD and heterozygosity.

show abstract

“…The cost per QALY gained decreased only slightly when we assumed no treatment of partial BD cases. This finding, alongside the anecdotal evidence that some patients with partial BD do experience clinical symptoms if untreated, 22,30 and the lack of toxicity for biotin 1 build a stronger case for the treatment of detected partial BD.…”

Section: Discussionmentioning

confidence: 90%

“…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%

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

et al. 2015

View full text Add to dashboard Cite

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...

show abstract

Diagnosis, treatment, follow‐up and gene mutation analysis in four Chinese children with biotinidase deficiency

Cited by 16 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

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

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

Contact Info

Product

Resources

About