Biotinidase Deficiency Presenting as Hyperventilation Syndrome

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Biotinidase is responsible for recycling the vitamin, biotin, and making the free biotin available to activate the biotin-dependent carboxylases, including pyruvate carboxylase, which is involved in mitochondrial energy metabolism. Individuals with untreated biotinidase deficiency usually exhibit lethargy, hypotonia, ataxia, cutaneous abnormalities, vision and hearing impairment and developmental delay.
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