BIOTINIDASE DEFICIENCY
A Booklet for Families & Professionals

REFERENCES

General References

Wolf, B. Disorders of Biotin Metabolism. In The Metabolic and Molecular Basis of Inherited Disease 8th Edition (eds. CR Scriver, AV Beaudet, WS Sly and D Valle) McGraw-Hill Book Company, New York. 1998.

Wolf, B. Disorders of biotin metabolism: Treatable neurological syndromes. In The Molecular and Genetic Basis of Neurological Disease 2nd Edition (eds. RN Rosenberg, BS Prusiner, SD Mauro, RL Barchi and LM Kunkel) Butterworth, Stoneham, MA, CD ROM including update, 1997.

Wolf, B. Biotinidase Deficiency. (eds. Gilman, S, Goldstein, GW, Waxman, SG), Neurobase, v.4.1, La Jolla, CA, 1998.

Dove Pettit, D, Heard, GS and Wolf, B. Biotinidase deficiency: In Laboratory Handbook of Newborn Screening, (ed. B Therrell) American Public health Association, p.133-138, 1993.

Specific References

Cole, H, Reynolds, TR, Lockyer, JM, Buck, GA, Danson, T, Spence, JE, Hymes, J and Wolf, B. Human serum biotinidase: cDNA cloning, sequencing, and characterization. J Biol Chem. 269:6566-6570, 1994.

Heard, GS, Wolf, B, Jefferson, LG, Weissbecker, KA, Nance, WE, Napolitano, A, Mitchell, PL, Lambert, FW and Linyear, AS. Neonatal screening for biotinidase deficiency: Results of a one year pilot study. J Pediatr. 108:40-46, 1986.

Hymes, J, Stanley, CM and Wolf, B. Mutations in BTD Causing Biotinidase Deficiency. Hum. Mutation. 18:375-381, 2001.

Hymes, J and Wolf, B. Biotinidase and its roles in biotin metabolism. Clin Chim Acta. 255:1-11, 1996.

Knight, HC, Reynolds, TR, Meyers, GA, Pomponio, RJ, Buck, GA, Wolf, B. Structure of the human biotinidase gene. Mammalian Genome 9:327-330, 1998.

Norrgard, KJ, Pomponio, RJ, Hymes, J and Wolf, B. Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children. Pediatr Res. 46:20-27, 1999.

Pomponio, RJ, Hymes, J, Reynolds, TR, Meyers, GA, Fleischhauer, K, Buck, GA and Wolf, B. Mutations in the Human Biotinidase Gene that Cause Profound Biotinidase Deficiency in Symptomatic Children: Molecular, Biochemical and Clinical Analysis. Pediatr Res. 42:840-848,1997.

Pomponio, RJ, Reynold, TR, Cole, H, Buck, GA, Wolf, B. Mutational "hotspot" in the human biotinidase gene as a cause of biotinidase deficiency. Nature Genet.11:96-98, 1995.

Salbert, BA, Astruc, J, and Wolf, B. Ophthalmologic abnormalities associated with biotinidase deficiency. Ophthalmalogica 206:177-181, 1993.

Salbert, BA, Pellock, JM, and Wolf, B. Characterization of seizures associated with biotinidase deficiency. Neurology 45:1351-1354, 1993.

Secor McVoy, JR, Levy, HL, Lawler, M, Schmidt, MA, Ebers, DD, Hart, PS, Dove Pettit, D, Blitzer, MG and Wolf, B. Partial biotinidase deficiency: Clinical and biochemical features. J Pediatr. 116:78-83, 1990.

Swango, KL, Demirkol, M, Huner, G, Pronicka, E, Sykut-Cegielska, J, Schulze, A and Wolf, B. Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. Human Genet. 102:571-575, 1998.

Wolf, B., Grier, RE, Parker, WD, Goodman, SI and Allen, RJ: Deficient biotinidase activity in late-onset multiple carboxylase deficiency. N Engl J Med. 308:161, 1983.

Wolf, B, Grier, RE, Allen, RJ, Goodman, SI and Kien, CL: Biotinidase deficiency: An enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta 131:273-281, 1983.

Wolf, B, Grier, RE, Allen, RJ, Goodman, SI, Kien, CL, Parker, WD, Howell, DM and Hurst, DL. Phenotypic variation in biotinidase deficiency. J Pediatr. 103:233-237, 1983.

Wolf, B, Heard, GS, Jefferson, LG, Proud, VK, Nance, WE and Weissbecker, KA. Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. N Engl J Med. 313:16-19, 1985.

Wolf, B and Heard, GS. Worldwide experience in newborn screening for biotinidase deficiency. Pediatr. 85:512-517, 1990.