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

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. F...

Full description

Saved in:
Bibliographic Details
Published in:Indian journal of pediatrics 2022-06, Vol.89 (6), p.594-596
Main Authors: Mohite, Kaustubh, Nair, Karthik Vijay, Sapare, Anilkumar, Bhat, Venkatraman, Shukla, Anju, Kekatpure, Minal, Patil, Siddaramappa J.
Format: Article
Language:English
Subjects:
Alleles
Biotinidase - genetics
Biotinidase Deficiency - diagnosis
Biotinidase Deficiency - genetics
Child
Clinical Brief
Gynecology
Homozygote
Humans
Medicine
Medicine & Public Health
Mutation
Pediatrics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0019-5456
0973-7693
DOI:10.1007/s12098-021-04000-3