Dariusz Rokicki Author

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Biotinidase Deficiency Presenting as Hyperventilation Syndrome

Author(s):

Iwanicka-Pronicka K, Pajdowska M, Dariusz Rokicki, Piekutowska-Abramczuk D, Kozlowski D,Wisniewska-Ligier D, Ksiazyk JB, Krajewska-Walasek M, Wolf B and Pronicka E

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.
We recently observed a child who presented with hyperventilation syndrome and lactic acidemia who was thought to have a mitochondrial disorder. After six months of multiple hyperventilation episodes in the absence of the usual neurocutaneous features of biotinidase deficiency, the child was determine... view more»

DOI: 10.4172/2327-5790.1000149

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