Heterozygous biotinidase deficiency does not impact ovarian reserve, response, or reproductive potential
Sign Up to like & getrecommendations! Published in 2018 at "Fertility and Sterility"
DOI: 10.1016/j.fertnstert.2018.07.612
Abstract: Biotinidase deficiency (BTD) impairs fatty acid and glucose metabolism by reducing utilization of biotin, a B complex vitamin. Knowledge regarding the effect of BTD on human reproductive function is limited; as only animal-based studies have… read more here.
Keywords: ovarian reserve; biotin; biotinidase deficiency; biotinidase ... See more keywords
Effect of BTD gene variants on in vitro biotinidase activity.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.07.006
Abstract: INTRODUCTION Biotinidase deficiency (BD), an autosomal recessive disease, is classified into profound (activity C (p.Asp444His), which is associated with partial BD. In vivo studies indicate that this variant reduces the biotinidase activity by 50%. The… read more here.
Keywords: biotinidase activity; variant; effect; biotinidase ... See more keywords
Tetraparesis as an initial manifestation of biotinidase deficiency: a case report
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Medicine and Surgery"
DOI: 10.1097/ms9.0000000000000099
Abstract: Introduction and importance: Biotinidase deficiency (BTD) is an autosomal recessive disorder and causes the deficiency of four biotin-containing carboxylases. The prevalence is estimated at 1 in 60 000 births. BTD is associated with a wide… read more here.
Keywords: biotinidase deficiency; manifestation; acid; case ... See more keywords
Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm10010004
Abstract: Biotinidase deficiency is an autosomal recessive metabolic disorder whose diagnosis currently depends on clinical symptoms and a biotinidase enzyme assay. This study aimed to investigate the mutational status and enzymatic activity of biotinidase deficiency in… read more here.
Keywords: biotinidase deficiency; mutations jordanian; biotinidase; identification characterization ... See more keywords
Establishing biotinidase reference interval: A foundation stone for newborn screening of biotinidase deficiency in Pakistan.
Sign Up to like & getrecommendations! Published in 2022 at "JPMA. The Journal of the Pakistan Medical Association"
DOI: 10.47391/jpma.2167
Abstract: OBJECTIVE To determine the reference interval of biotinidase activity in healthy neonates. METHODS The cross-sectional study was conducted at the Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology, Rawalpindi, Pakistan, from May… read more here.
Keywords: reference interval; biotinidase; biotinidase deficiency; pathology ... See more keywords