PathWhiz

Pathway Description

Biotinidase Deficiency

Mus musculus

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

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.

This pathway was propagated using PathWhiz - Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.

Propagated from PW000092

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