Holocarboxylase Synthetase Deficiency Follow-up

1. Roth K, Cohn R, Yandrasitz J, Preti G, Dodd P, Segal S. Beta-methylcrotonic aciduria associated with lactic acidosis. J Pediatr. 1976 Feb. 88(2):229-35. [QxMD MEDLINE Link].

2. Saunders M, Sweetman L, Robinson B, Roth K, Cohn R, Gravel RA. Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts. J Clin Invest. 1979 Dec. 64(6):1695-702. [QxMD MEDLINE Link].

3. Roth KS, Yang W, Foremann JW, Rothman R, Segal S. Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. J Pediatr. 1980 May. 96(5):845-9. [QxMD MEDLINE Link].

4. Burri BJ, Sweetman L, Nyhan WL. Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. J Clin Invest. 1981 Dec. 68(6):1491-5. [QxMD MEDLINE Link].

5. Wolf B, Grier RE, Parker WD Jr, Goodman SI, Allen RJ. Deficient biotinidase activity in late-onset multiple carboxylase deficiency. N Engl J Med. 1983 Jan 20. 308(3):161. [QxMD MEDLINE Link].

6. Tammachote R, Janklat S, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Holocarboxylase synthetase deficiency: novel clinical and molecular findings. Clin Genet. 2010 Jul. 78(1):88-93. [QxMD MEDLINE Link].

7. Zempleni J, Li Y, Xue J, Cordonier EL. The role of holocarboxylase synthetase in genome stability is mediated partly by epigenomic synergies between methylation and biotinylation events. Epigenetics. 2011 Jul. 6(7):892-4. [QxMD MEDLINE Link]. [Full Text].

8. León-Del-Río A, Valadez-Graham V, Gravel RA. Holocarboxylase Synthetase: A Moonlighting Transcriptional Coregulator of Gene Expression and a Cytosolic Regulator of Biotin Utilization. Annu Rev Nutr. 2017 Aug 21. 37:207-223. [QxMD MEDLINE Link].

9. Bailey LM, Ivanov RA, Jitrapakdee S, Wilson CJ, Wallace JC, Polyak SW. Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency. Hum Mutat. 2008 Jun. 29(6):E47-57. [QxMD MEDLINE Link].

10. Donti TR, Blackburn PR, Atwal PS. Holocarboxylase synthetase deficiency pre and post newborn screening. Mol Genet Metab Rep. 2016 Jun. 7:40-4. [QxMD MEDLINE Link]. [Full Text].

11. Mayende L, Swift RD, Bailey LM, et al. A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency. J Mol Med (Berl). 2012 Jan. 90(1):81-8. [QxMD MEDLINE Link].

12. Slavin TP, Zaidi SJ, Neal C, Nishikawa B, Seaver LH. Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation. JIMD Rep. 2013 Sep 13. [QxMD MEDLINE Link].

13. Bandaralage SP, Farnaghi S, Dulhunty JM, Kothari A. Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review. Pediatr Radiol. 2016 Mar. 46 (3):357-64. [QxMD MEDLINE Link].

14. [Guideline] Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics. 2004 Sep. 114(3):889-94. [QxMD MEDLINE Link]. [Full Text].

15. De Castro M, Zand DJ, Lichter-Konecki U, Kirmse B. Severe neonatal holocarboxylase synthetase deficiency in west african siblings. JIMD Rep. 2015. 20:1-4. [QxMD MEDLINE Link].

16. Wilson CJ, Myer M, Darlow BA, Stanley T, Thomson G, Baumgartner ER, et al. Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates. J Pediatr. 2005 Jul. 147(1):115-8. [QxMD MEDLINE Link].

17. Eldjarn L, Jellum E, Stokke O, Pande H, Waaler PE. Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism. Lancet. 1970 Sep 5. 2(7671):521-2. [QxMD MEDLINE Link].

18. Gompertz D, Draffan GH, Watts JL, Hull D. Biotin-responsive beta-methylcrotonylglycinuria. Lancet. 1971 Jul 3. 2(7714):22-4. [QxMD MEDLINE Link].

19. Gompertz D, Goodey PA, Bartlett K. Evidence for the enzymic defect in beta-methylcrotonylglycinuria. FEBS Lett. 1973 May 15. 32(1):13-4. [QxMD MEDLINE Link].

20. Malvagia S, Morrone A, Pasquini E, Funghini S, la Marca G, Zammarchi E, et al. First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. Prenat Diagn. 2005 Dec. 25(12):1117-9. [QxMD MEDLINE Link].

21. Nyhan WL, Willis M, Barshop BA, Gangoiti J. Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency. J Inherit Metab Dis. 2009 Apr 11. [QxMD MEDLINE Link].

22. Pacheco-Alvarez D, Solorzano-Vargas RS, Gravel RA, Cervantes-Roldan R, Velazquez A, Leon-Del-Río A. Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency. J Biol Chem. 2004 Dec 10. 279(50):52312-8. [QxMD MEDLINE Link].

23. Santer R, Muhle H, Suormala T, Baumgartner ER, Duran M, Yang X, et al. Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects. Mol Genet Metab. 2003 Jul. 79(3):160-6. [QxMD MEDLINE Link].

24. Suormala T, Fowler B, Duran M, Burtscher A, Fuchshuber A, Tratzmüller R, et al. Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro. Pediatr Res. 1997 May. 41(5):666-73. [QxMD MEDLINE Link].

25. Yang X, Aoki Y, Li X, Sakamoto O, Hiratsuka M, Kure S, et al. Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. Hum Genet. 2001 Nov. 109(5):526-34. [QxMD MEDLINE Link].

Karl S Roth, MD Retired Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, The Scientific Research Honor Society, Society for Pediatric Research, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Margaret M McGovern, MD, PhD Professor and Chair of Pediatrics, Stony Brook University School of Medicine

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Luis O Rohena, MD, PhD, FAAP, FACMG Deputy Chief, Department of Pediatrics, Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD, PhD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Christian J Renner, MD Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article