Abstract
Two boys presented with recurrent scaly erythematous eruption resembling seborrheic dermatitis following episodes of infection. Lab test for both revealed low biotinidase level, which confirmed the diagnosis of an inherited metabolic disorder.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Bibliography
Baykal T, Huner G, Sarbat G, et al. Incidence of biotinidase deficiency in Turkish newborns (letter). Acta Paediatr. 1998;87:1102–3.
Burton BK, Roach ES, Wolf B, Weissbecker KA. Sudden death associated with biotinidase deficiency. Pediatrics. 1987;79(3):482–3.
Chedrawi AK, Ali A, Al Hassnan ZN, Faiyaz-Ul-Haque M, Wolf B. Profound biotinidase deficiency in a child with predominantly spinal cord disease. J Child Neurol. 2008;23(9):1043–8.
Cowan TM, Kazerouni NN, Dharajiya N, Lorey F, Roberson M, Hodgkinson C, et al. Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. Mol Genet Metab. 2012;106(4):485–7.
Dahiphale R, Jain S, Agrawal M. Biotinidase deficiency. Indian Pediatr. 2008;45(9):777–9.
Desai S, Ganesan K, Hegde A. Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. Pediatr Radiol. 2008;38(8):848–56.
Gompertz D, Draffan GH, Watts JL, Hull D. Biotin-responsive beta-methylcrotonylglycinuria. Lancet. 1971;2(7714):22–4.
Mardach R, Zempleni J, Wolf B, Cannon MJ, Jennings ML, Cress S, et al. Biotin dependency due to a defect in biotin transport. J Clin Invest. 2002;109(12):1617–23.
Procter M, Wolf B, Crockett DK, Mao R. The biotinidase gene variants registry: a paradigm public database. G3 (Bethesda). 2013;3(4):727–31.
Suormala TM, Baumgartner ER, Bausch J, et al. Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC). Clin Chim Acta. 1988;177:253–70.
Sweetman L, Nyhan WL. Inheritable biotin-treatable disorders and associated phenomena. Annu Rev Nutr. 1986;6:317–43.
Tokatli A, Coşkun T, Ozalp I. Biotinidase deficiency with neurological features resembling multiple sclerosis. J Inherit Metab Dis. 1997;20(5):707–8.
Tsao CY, Kien CL. Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness. J Child Neurol. 2002;17(2):146.
Venkataraman V, Balaji P, Panigrahi D, Jamal R. Biotinidase deficiency in childhood. Neurol India. 2013;61(4):411–3.
Wastell HJ, Bartlett K, Dale G, et al. Biotinidase deficiency: a survey of 10 cases. Arch Dis Child. 1988;63:1244–9.
Welling DB. Long-term follow-up of hearing loss in biotinidase deficiency. J Child Neurol. 2007;22(8):1055.
Wolf B. Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”. Genet Med. 2012;14(6):565–75.
Wolf B, Heard GS. Disorders of biotin metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. New York: McGraw-Hill; 1989. p. 2083–103.
Wolf B, Grier RE, Allen RJ, et al. Biotinidase deficiency: the enzymatic defect in late onset multiple carboxylase deficiency. Clin Chim Acta. 1983;131:273–81.
Wolf B, Heard GS, Weissbecker KA, et al. Biotinidase deficiency: initial clinical features and rapid diagnosis. Ann Neurol. 1985;18:614–7.
Wolf B, Pomponio RJ, Norrgard KJ, et al. Delayed-onset profound biotinidase deficiency. J Pediatr. 1998;132(2):362–5.
Zempleni J, Wijeratne SS, Hassan YI. Biotin. Biofactors. 2009;35(1):36–46.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2019 Springer Nature Switzerland AG
About this chapter
Cite this chapter
El-Darouti, M.A., Al-Ali, F.M. (2019). Acrodermatitis Enteropathica-Like Eruption with Neurological Symptoms. In: Challenging Cases in Dermatology Volume 2. Springer, Cham. https://doi.org/10.1007/978-3-030-21855-3_13
Download citation
DOI: https://doi.org/10.1007/978-3-030-21855-3_13
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-21854-6
Online ISBN: 978-3-030-21855-3
eBook Packages: MedicineMedicine (R0)