Maria Shoaib, Ahmad Faraz, Syed Ahsanuddin Ahmed, Marium Jamil, Zobia Aijaz


Biotinidase deficiency is an autosomal recessive in born error of metabolism which is characterized by the lack of cleavage of biotin. This disease has been reported very rarely with the incidence found to be 1 per 60,089 and 1 per 112,271 of live births, respectively. This condition has profound effects on the neurological system, various neurocutaneous manifestations and metabolic derangements. We report a case of 3-year-old male child who presented in ER with severe respiratory distress for 1 day in a tertiary care set up. He had been referred from multiple peripheral centres. His associated complaints included severe rash, restlessness and progressive mental deterioration for 2 years. He was managed on symptomatically initially, later a diagnosis of Biotinidase deficiency was made, he responded well on supplemental biotin. Our intention to document this case was for sake of its uniqueness with very common symptoms, varied presentation and rarity of the disease which makes it a diagnostic dilemma.

Keywords: Biotin, Biotinidase deficiency; Metabolic disorder; Diagnostic dilemma

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González-Salazar F, Gabino Gerardo-Aviles J, Rodríguez Jacobo S, Vargas-Camacho G. [Biotinidase deficiency and vascular ring malformation: case report]. Arch Argent Pediatr 2014;112(5):e217–21.

Wolf B. Biotinidase deficiency: [ldquo] if you have to have an inherited metabolic disease, this is the one to have. Genet Med 2012;14(6):565–75.

Hymes J, Stanley CM, Wolf B. Mutations in BTD causing biotinidase deficiency. Hum Mutat 2001;18(5):375–81.

Koohmanaee S, Zarkesh M, Tabrizi M, Rad AH, Divshali S, Dalili S. Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report. Iran J Child Neurol 2015;9(2):58–60.

Rezvani I. Metabolic diseases. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, editors. Nelson Textbook of Pediatrics. 18th ed. Saunders; Philadelphia: 2007. p.543.

Rathi N, Rathi M. Biotinidase deficiency with hypertonia as unusual feature. Indian Pediatr 2009;46(1):65–7.

Gulati S, Vaswani M, Kalra V, Kabra M, Kaur M. An approach to neurometabolic disorders by a simple metabolic screen. Indian Pediatr 2000;37(1):63–9.

Weber P, Scholl S, Baumgartner ER. Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. Dev Med Child Neurol 2004;46(7):481–4.


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