Journal of Genetic Disorders & Genetic Reports .ISSN: 2327-5790

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Case Report, J Genet Disor Genet Rep Vol: 6 Issue: 1

Biotinidase Deficiency Presenting as Hyperventilation Syndrome

Iwanicka-Pronicka K1*, Pajdowska M2, Dariusz Rokicki3, Piekutowska-Abramczuk D4, Kozłowski D2, Wiśniewska-Ligier D5, Ksiazyk JB3, Krajewska-Walasek M4, Wolf B6 and Pronicka E3,4
1Department of Audiology and Phoniatrics, The Children’s Memorial Health Institute, Warsaw, Poland
2Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children’s Memorial Health Institute, Warsaw, Poland
3Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland
4Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland
5Department of Pediatrics, Immunology and Nephrology, Polish Mother’s Memorial Hospital Research Institute, Lodz, Poland
6Department of Research Administration, Henry Ford Hospital, Detroit, MI, 48202, USA and Center for Molecular Medicine and Genetics, Wayne State University, School of Medicine, Detroit, MI 48201, USA
Corresponding author : Iwanicka-Pronicka K, MD, PhD
Department of Audiology and Phoniatrics, The Children’s Memorial Health Institute, Aleja Dzieci Polskich 20 04-730, Warsaw, Poland
Tel: +48 22 815 17 61
Fax: +48 22 815 16 14
E-mail: [email protected]
Received: December 12, 2016 Accepted: January 05, 2017 Published: January 05, 2017
Citation: Iwanicka-Pronicka K, Pajdowska M, Rokicki D, Piekutowska-Abramczuk D, Kozłowski D, et al. (2017) Biotinidase Deficiency Presenting as Hyperventilation Syndrome. J Genet Disor Genet Rep 6:1. doi: 10.4172/2327-5790.1000149


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 determined to be homozygous for a likely pathogenic variant of the biotinidase, BTD, gene. This case prompted us to evaluate retrospectively the presence of respiratory alkalosis and hypocapnia, indicative of hyperventilation syndrome, in other symptomatic individuals with biotinidase deficiency.
The results showed statistically significant hypocapnia at the onset of symptoms which rapidly resolved upon administration of biotin (pCO2 27.2 ±11.6 vs. 41.5 ± 3.5; normal >35 mmHg).
Selective screening for biotinidase deficiency should be considered in individuals with hypocapnia and respiratory alkalosis. This is particularly important in locations where newborn screening for this disorder is not performed.

Keywords: Biotinidase deficiency; Hyperventilation syndrome; Hypocapnia; Respiratory alkalosis

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