Biotinidase Deficiency, a Rare but Treatable Inborn Error of Metabolism

Amit Ranjan Rup,Mukesh Kumar Jain,Sibabratta Patanaik,Jyoti Ranjan Behera,Arun Kumar Dash

doi:10.3126/jnps.v41i2.32749

Abstract

Biotinidase deficiency (BTD) is a rare inherited metabolic disorder with predominant dermatogical and neurological manifestations, which if untreated leads to severe neurological sequelae. Early diagnosis and prompt treatment with biotin prevents further progression of neurological symptoms and resolution of cutaneous features. We report an interesting case of four and half year male child presenting with seizures, developmental delay with non resolving extensive skin lesions and alopecia, diagnosed as BTD and successfully treated.

Highlights

Biotinidase deficiency (BTD) is one among few treatable Inborn Error of Metabolism (IEM) with prevalence of 1 in 60,000 live births worldwide.[1]Progressive neurological impairment and severe dermatological involvement are the usual manifestation, which responds dramatically to biotin therapy.[2 ]
Child was lethargic with Glassgow coma scale (GCS) 5/15, with tachycardia and tachypnoea with normal blood pressure and saturation
Biotinidase enzyme releases biotin, making it available for reuse by cleaving dietary protein bound biocytin, which acts as coenzyme for four carboxylases that have roles in gluconeogenesis, branch-chain amino acids catabolism and fatty acid synthesis

Summary

Introduction

Biotinidase deficiency (BTD) is one among few treatable Inborn Error of Metabolism (IEM) with prevalence of 1 in 60,000 live births worldwide.[1]Progressive neurological impairment and severe dermatological involvement are the usual manifestation, which responds dramatically to biotin therapy.[2 ]. Biotinidase Deficiency, A Rare but Treatable Inborn Error of Metabolism. Biotinidase deficiency (BTD) is one among few treatable Inborn Error of Metabolism (IEM) with prevalence of 1 in 60,000 live births worldwide.[1]

Results

Conclusion