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Evaluating Reproductive Carrier Screening using Biotinidase Deficiency as a Model: Variants Identified, Variant Rates and Management.
Genet Med
December 2024
Division of Genetics, Birth Defects and Metabolism, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Emeritus, Departments of Medical Genetics and Pediatrics, Henry Ford Hospital, Detroit, MI, USA.
Article Synopsis
- The study reviewed biotinidase gene variants in a large group of women undergoing reproductive carrier screening to improve management of those with significant gene changes.
- About 6.1% of the 91,637 women tested had pathogenic or likely pathogenic variants, with a specific variant (D444H) being the most common in 92.3% of cases.
- The results showed variations in heterozygote rates among different racial and ethnic groups, highlighting the potential for reproductive carrier screening to lead to earlier diagnoses compared to traditional newborn screening methods.
Feasibility of clinical newborn metabolic screening in a high-volume maternity center in Nepal.
BMC Glob Public Health
February 2024
Mother and Infant Research Activities (MIRA), Kathmandu, Nepal.
Background: Strategic action plans around newborn health evaluation are needed, to address the high neonatal mortality rate in Nepal. Surveillance systems, like Newborn Metabolic Screening (NBS), could reveal unrecognized drivers of neonatal death. NBS is not routinely performed in Nepal.
View Article and Find Full Text PDFBiotinidase deficiency-masquerade of primary immunodeficiency disease in neonate.
BMJ Case Rep
December 2024
Department of Pediatrics, Graphic Era Institute of Medical Sciences, Dehradun, Uttarakhand, India
Biotinidase deficiency, a rare metabolic disorder characterised by abnormal biotin metabolism, affects the biotin-dependent carboxylase functions. Primarily characterised by neurological and skin disorder, it may present with myriad features. Early recognition is important for preventing long-term morbidities.
View Article and Find Full Text PDFCase report: A case of holocarboxylase synthetase deficiency with respiratory tract as the initial symptom.
Front Genet
November 2024
Department of Endocrinology, Genetics and Metabolism, Jiangxi Provincial Children's Hospital, Nanchang, Jiangxi, China.
Introduction: Holocarboxylase synthetase deficiency (HLCSD) is a rare autosomal recessive genetic disorder caused by mutations in the holocarboxylase synthetase (HLCS) gene, which affects multiple systems. Common clinical manifestations include metabolic acidosis, rash, feeding difficulties, and growth retardation, with predominant involvement of the nervous system, skin, and hair. However, respiratory symptoms as the initial manifestation are relatively rare.
View Article and Find Full Text PDFComprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye.
Turk J Pediatr
November 2024
Division of Child Nutrition and Metabolism, Department of Pediatrics, Van Research and Training Hospital, Van, Türkiye.
Article Synopsis
- Biotin is a water-soluble vitamin essential for carboxylation, and its deficiency (biotinidase deficiency, BD) can be classified as partial or profound depending on serum enzyme activity levels.
- A study involving 302 patients in eastern Türkiye assessed various factors such as age, family history, and genetic mutations related to BD, with the majority diagnosed through neonatal screening.
- The research identified 306 variants of the BTD gene, with the most common genetic mutations being c.410G>A (p.Arg137His) and c.1270G>C (p.Asp424His), and specific genotypes were linked to more severe deficiency symptoms.
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