Biotinidase Deficiency in the Second Decade with Atypical Neuroimaging Findings

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Gowda Vykuntaraju K.; Avaragollapuravarga Mathada Amit; Srinivasan Varunvenkat M.; Vamyanmane Dhananjaya K.

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Journal Paper

Paper Information

Journal: Advanced Biomedical Research Year:2023 | Volume:12 | Issue:june Page(s): 1-3

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Information Journal Paper

Title

Biotinidase Deficiency in the Second Decade with Atypical Neuroimaging Findings

Author(s)

Gowda Vykuntaraju K. | Avaragollapuravarga Mathada Amit | Srinivasan Varunvenkat M. | Vamyanmane Dhananjaya K. | Issue Writer Certificate

Keywords

BiotinQ4

biotinidase deficiencyQ4

BTD gene variantsQ4

enzyme activityQ4

neonatal screeningQ4

Abstract

Biotinidase deficiency is a rare autosomal recessive neurometabolic disorder resulting in Biotin deficiency. Our patient presented with seizures and developmental delay since infancy and was started on megavitamin supplements. At 14 years, she presented with motor regression with encephalopathy after discontinuation of vitamins. There were no skin and hair changes. Magnetic resonance imaging (MRI) of the brain showed bilateral symmetrical posterior putamen signal changes. Tandem mass spectroscopy showed increased methyl malonyl carnitine and 3-OH isovaleryl carnitine. There was a low Biotinidase level, and a pathogenic variant in the BTD gene in the next-generation sequencing was identified. Special importance is placed on the unusual symmetric posterior putamen involvement seen in MRI of the brain.

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