Biotinidase Deficiency


Biotinidase deficiency (Multiple carboxylase deficiency) is an autosomal recessive disease caused by a mutation in the BTD gene which does 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 rush. Treatment includes biotin.

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References

  1. Uniprot: P43251
  2. OMIM: Entry 253260
  3. Wikipedia: Biotinidase deficiency
  4. Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (pp 32) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
  5. 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
  6. 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
  7. Hymes J, Stanley CM, Wolf B: Mutations in BTD causing biotinidase deficiency. Hum Mutat. 2001 Nov;18(5):375-81. Pubmed
  8. 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. Pubmed