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

Kaustubh Mohite, Karthik Vijay Nair, Anilkumar Sapare, Venkatraman Bhat, Anju Shukla, Minal Kekatpure, Siddaramappa J. Patil

Research output: Contribution to journalArticlepeer-review

Abstract

Biotinidase deficiency (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 classified 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 affecting function of brain, eye, ear, and skin. Here, a first-born child to consanguineous parents with late-onset profound BD presenting with hyperventilation secondary to lactic acidosis, hypotonia, evolving spasticity, and abnormal neuroimaging findings caused by novel homozygous variant, c.466-3T>G in the BTD gene is reported.

Original languageEnglish
Pages (from-to)594-596
Number of pages3
JournalIndian Journal of Pediatrics
Volume89
Issue number6
Early online date14-01-2022
DOIs
Publication statusPublished - 06-2022

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Fingerprint

Dive into the research topics of 'Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene'. Together they form a unique fingerprint.

Cite this