Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene

Simple item page
dc.contributor.authorMohite, Kaustubhen_US
dc.contributor.authorNair, Karthik Vijayen_US
dc.contributor.authorSapare, Anilkumaren_US
dc.contributor.authorBhat, Venkatramanen_US
dc.contributor.authorShukla, Anjuen_US
dc.contributor.authorKekatpure, Minalen_US
dc.contributor.authorPatil, Siddaramappa J.en_US
dc.date.accessioned2023-08-19T04:53:35Z
dc.date.available2023-08-19T04:53:35Z
dc.date.issued2022-06
dc.description.abstractBiotinidase defciency (BD) is an autosomal recessive disorder caused by bi-allelic mutation in the BTD gene. Clinical manifestations in BD mainly depends on residual biotinidase enzyme activity, although there are some exceptions. Broadly BD disorders are classifed as profound BD and partial BD. Further profound BD can be early onset, late onset, and sometimes may be asymptomatic. Clinically late-onset profound BD can present with spectrum of manifestations ranging from single organ to multiple organ involvement, typically afecting function of brain, eye, ear, and skin. Here, a frst-born child to consanguineous parents with late-onset profound BD presenting with hyperventilation secondary to lactic acidosis, hypotonia, evolving spasticity, and abnormal neuroimaging fndings caused by novel homozygous variant, c.466-3T>G in the BTD gene is reported.en_US
dc.identifier.affiliationsDepartment of Pediatrics, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, Karnataka, Indiaen_US
dc.identifier.affiliationsDepartment of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, Indiaen_US
dc.identifier.affiliationsDepartment of Radiology, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, Karnataka, Indiaen_US
dc.identifier.affiliationsDepartment of Neurology, Division of Pediatric Neurology, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, Karnataka, Indiaen_US
dc.identifier.affiliationsDivision of Medical Genetics, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, Karnataka 560099, Indiaen_US
dc.identifier.citationMohite Kaustubh, Nair Karthik Vijay, Sapare Anilkumar, Bhat Venkatraman, Shukla Anju, Kekatpure Minal, Patil Siddaramappa J.. Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene. Indian Journal of Pediatrics. 2022 Jun; 89(6): 594–596en_US
dc.identifier.issn0973-7693
dc.identifier.issn0019-5456
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/223717
dc.languageenen_US
dc.publisherDr. K C Chaudhuri Foundationen_US
dc.relation.issuenumber6en_US
dc.relation.volume89en_US
dc.source.urihttps://doi.org/10.1007/s12098-021-04000-3en_US
dc.subjectBiotinidase defciencyen_US
dc.subjectHyperventilationen_US
dc.subjectWeakened splice varianten_US
dc.subject3-hydroxyisovalerateen_US
dc.subjectLactic acidosisen_US
dc.titleLate Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Geneen_US
dc.typeJournal Articleen_US
Files
Collections
Indian Journal of Pediatrics