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Pathway Description
Biotinidase Deficiency
Homo sapiens
Disease Pathway
Biotinidase deficiency (Multiple carboxylase deficiency) is an autosomal recessive disease caused by a mutation in the BTD gene which codes for biotinidase. A deficiency in this enzyme results in accumulation of ammonia and ketone bodies in blood; 3-hydroxyisovaleric acid in plasma, spinal fluid, and urine; hydroxypropionic acid, 2-hydroxybutyric acid, 3-Hydroxybutyric acid, and citric acid in spinal fluid; and 3-methylcrotonylglycine, hydroxypropionic acid, and L and D-lactic acid in urine. Symptoms, which can present from birth into adulthood include hypotonia, ketosis, hyperammonemia, motor retardation, coma, and seborrhoic skin rash. Treatment includes biotin.
References
Biotinidase Deficiency References
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.29 Heilbronn: SPS Verlagsgesellschaft
Baumgartner ER, Suormala T, Wick H, Bausch J, Bonjour JP: Biotinidase deficiency: factors responsible for the increased biotin requirement. J Inherit Metab Dis. 1985;8 Suppl 1:59-64. doi: 10.1007/BF01800661.
Pubmed: 3930842
Hart PS, Hymes J, Wolf B: Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency. Am J Hum Genet. 1992 Jan;50(1):126-36.
Pubmed: 1729884
Hymes J, Stanley CM, Wolf B: Mutations in BTD causing biotinidase deficiency. Hum Mutat. 2001 Nov;18(5):375-81. doi: 10.1002/humu.1208.
Pubmed: 11668630
Pomponio RJ, Hymes J, Reynolds TR, Meyers GA, Fleischhauer K, Buck GA, Wolf B: Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. Pediatr Res. 1997 Dec;42(6):840-8. doi: 10.1203/00006450-199712000-00020.
Pubmed: 9396567
Pindolia K, Chen J, Cardwell C, Cui X, Chopp M, Wolf B: Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration. Neurobiol Dis. 2012 Sep;47(3):428-35. doi: 10.1016/j.nbd.2012.04.016. Epub 2012 May 8.
Pubmed: 22579707
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Pacheco-Alvarez D, Solorzano-Vargas RS, Del Rio AL: Biotin in metabolism and its relationship to human disease. Arch Med Res. 2002 Sep-Oct;33(5):439-47. doi: 10.1016/s0188-4409(02)00399-5.
Pubmed: 12459313
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