Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder
Sign Up to like & getrecommendations! Published in 2020 at "Brain and Development"
DOI: 10.1016/j.braindev.2020.07.007
Abstract: Biotinidase deficiency disorder is a rare inherited metabolic disorder with typical neurological manifestations of hypotonia, developmental delay, rashes, seizures, hearing and vision impairment. We present two cases with different and unusual clinical profiles, whose neuroimaging… read more here.
Keywords: biotinidase deficiency; disorder; neuromyelitis optica; optica spectrum ... See more keywords
Biotinidase deficiency characterized by skin and hair findings.
Sign Up to like & getrecommendations! Published in 2020 at "Clinics in dermatology"
DOI: 10.1016/j.clindermatol.2020.03.004
Abstract: Biotinidase deficiency is a rare hereditary metabolic disease. Only a few cases have been reported in China, almost all of which have been in the pediatric population. We report a case of a girl with… read more here.
Keywords: biotinidase deficiency; hair findings; deficiency; skin hair ... See more keywords
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
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
Sign Up to like & getrecommendations! Published in 2018 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.03.012
Abstract: All States screen for biotinidase deficiency and galactosemia, and X-linked adrenoleukodystrophy (X-ALD) has recently been added to the Recommended Uniform Screening Panel (RUSP).We sought to consolidate these tests by combining them into a single multiplex… read more here.
Keywords: mass spectrometry; galactosemia; biotinidase deficiency; deficiency galactosemia ... 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
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.661416
Abstract: Introduction: Biotinidase deficiency (BD) is an autosomal recessive disease causing a defect in the biotin-releasing enzyme. Newborn screening (NBS) allows early diagnosis and treatment, ensuring excellent prognosis. The aim of this study was to describe… read more here.
Keywords: italy; diagnosis; biotinidase deficiency; treatment ... 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