Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency

AL-Eitan, Laith N.; Alqa'qa', Kifah; Amayreh, Wajdi; Khasawneh, Rame; Aljamal, Hanan A.; Al-Abed, Mamoon; Haddad, Yazan; Rawashdeh, Tamara A; Jaradat, Zaher M; Haddad, Hazem

doi:10.3390/jpm10010004

Cited by 9 publications

(6 citation statements)

References 32 publications

(54 reference statements)

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“…A large number of novel polymorphic variants for the BTD gene are reported every day in various countries. Possible rich combinations of pathogenic variants may lead to diversi cation of clinical phenotypes, in particular, in countries such as Turkey, Saudi Arabia, and Jordan, where there are high rates of consanguineous marriage (13,21,33). These polymorphic variant combinations also make it di cult to predict the expected phenotype.…”

Section: Discussionmentioning

confidence: 99%

“…To date, over 200 pathogenic variants have been identi ed for the BTD gene responsible for BTD (10). Globally, the most common variant is p.D444H, but the incidence rate varies from country to country (11,12,13). The various combinations of severe and mild variants in the alleles cause the phenotypic variation, and the biochemical properties of biotinidase may lead to an unsteady biochemical phenotype.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

The Course of Biotinidase Activities After Neonatal Period in The Screened Newborns and Consequences of The Concordance With Their Genotypes.

Karaoğlan

Nacarkahya

Aytaç

et al. 2021

Preprint

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Background/aim: Biotinidase deficiency (BTD) is characterized by broad genotypic variants and unsteady biotinidase activity. Increasing enzyme activity and maturation throughout childhood. This study aims to reveal the course of biotinidase activities in a long-term follow-up period and concordance with their genotypes .Participants/Methods: A total of 1,773 biotinidase enzyme (BT) activity measurements were performed in 711 newborns with variants in the BTD gene over a 4-year follow-up period. Biochemical phenotyping was classified into four groups based on the highest measured enzyme activity level during the follow-up: Profound(≤10%), Partial(10.1-30%), Heterozygous(30.1-66.5%), and Normal(>66.6%). Results: The number of participants with BTD in the biochemical phenotype groups assigned based on the first measurement was 59, 217, 314, and 121 in the profound, partial, heterozygous, and normal groups respectively. Based on the highest measurement value during follow-up, the number and net changes of participants in groups were 22(-37), 95(-122), 333(+19), and 261(+140), respectively. The overall concordance between genotypes and biotinidase activities based on the highest measurement was 50.7%. A moderate correlation was found between the highest enzyme value and age (r=-0.573, p=0.002) in heterozygous plus normal biochemical phenotype groups in first months.Conclusion:This study shows that the biotinidase activities increase at a later age after neonatal period during long-term follow-up, and there is low concordance between the biochemical phenotype and their genotype. These findings indicate the important role of the monitoring the course of biotinidase enzyme activities for a longer period of time to determine the treatment decision.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The Course of Biotinidase Activities After Neonatal Period in The Screened Newborns and Consequences of The Concordance With Their Genotypes.

Karaoğlan

Nacarkahya

Aytaç

et al. 2021

Preprint

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“…Early childhood or NBS helps to detect such a problem and is easily treated to avoid severe consequences. 67 Mutation Q456H has been found in the Austrian population. This mutation causing the profound deficiency is common in NBS in the United States.…”

Section: Btd Mutationmentioning

confidence: 99%

A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype–Phenotype Analysis

et al. 2022

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Biotinidase (BTD) deficiency is a rare autosomal recessive metabolic disorder caused by insufficient biotin metabolism, where it cannot recycle the vitamin biotin. When this deficiency is not treated with supplements, it can lead to severe neurological conditions. Approximately 1 in 60,000 newborns are affected by BTD deficiency. The BTD deficiency causes late-onset biotin-responsive multiple carboxylase deficiency, which leads to acidosis or lactic acidosis, hypoglycemia, and abnormal catabolism. BTD deficiency is of two types based on the amount of BTD Enzyme present in the serum. A wide range of pathogenic mutations in the BTD gene are reported worldwide. Mutations in the BTD gene lead to profound and partial BTD deficiency. Profound BTD deficiency results in a severe pathogenic condition. A high frequency of newborns are affected with the partial deficiency worldwide. They are mostly asymptomatic, but symptoms may appear during stressful conditions such as fasting or viral infections. Several pathogenic mutations are significantly associated with neurological, ophthalmological, and skin problems along with several other clinical features. This review discusses the BTD gene mutation in multiple populations detected with phenotypic features. The molecular-based biomarker screening is necessary for the disease during pregnancy, as it could be helpful for the early identification of BTD deficiency, providing a better treatment strategy. Moreover, implementing newborn screening for the BTD deficiency helps patients prevent several diseases.

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“…100 Development of strategies to detect in donors and recipients, prevent and treat potential zoonosis is necessary for the safety of xenotransplantation. 93,106,108,109 In the study done by AL-Eitan et al, 110 One Health concept has only been applied to rabies in Egypt and to MERS COV in Saudi Arabia, however it has been absent in other aspect and other countries of the Middle East. In the absence of One health application in countries of Middle East, xenotransplantation's risk of zoonosis remains a special concern in the former countries.…”

Section: Zoonosismentioning

confidence: 99%

Barriers toward xenotransplantation in Arab World

Ghazi,

Saleh,

Abdallah

et al. 2024

Xenotransplantation

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Organ transplant is a crucial therapeutic strategy offering a life‐saving and transformative medical intervention. It provides an opportunity to improve their quality of life and increase their lifespan. The shortage of organs remains a critical global challenge, leading to a prolonged waiting times for organ receivers, which contributes to an increase in morbidity and mortality rates. Hence, xenotransplantation offered a promising solution to the global shortage of organs through the use of animal organs, leading to an increase in donor availability, reducing waiting times, minimizing organ trafficking, improving genetic engineering advancements, and driving scientific innovation. Even though xenotransplantation has many benefits in the clinical setting, it has many barriers that are hindering its achievements and constraining its occurrence. Some barriers to xenotransplant are general, such as the immunological barrier, while others are specific to certain regions due to local causes. The Arab region exhibits disparities in clinical settings compared to the global context, marked by the huge economic crisis and a shortage of trained healthcare professionals. Considering the huge resources and advancements needed in the field of xenotransplantation, this review aims to explore the specific barriers toward xenotransplantation in the Arab countries, highlighting the challenges to overcome these barriers.

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Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency

Cited by 9 publications

References 32 publications

The Course of Biotinidase Activities After Neonatal Period in The Screened Newborns and Consequences of The Concordance With Their Genotypes.

The Course of Biotinidase Activities After Neonatal Period in The Screened Newborns and Consequences of The Concordance With Their Genotypes.

A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype–Phenotype Analysis

Barriers toward xenotransplantation in Arab World

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