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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
[Uniprot: P43251](http://www.uniprot.org/uniprot/P43251)
[OMIM: Entry 253260](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253260)
[Wikipedia: Biotinidase deficiency](http://en.wikipedia.org/wiki/Biotinidase_deficiency)
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.
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
Wolf B: Biotinidase Deficiency
Pubmed: 20301497
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
Biotin Metabolism References
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.
Pubmed: 12459313
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