Case report of early biotinidase deficiency, a type of multiple carboxylase deficiency

Authors

  • Cheruku Rajesh Department of Pediatrics, Mamata Medical College and Hospital, Khammam, Telangana, India http://orcid.org/0000-0002-2466-7294
  • N. Shivaramakrishna Babji Department of Pediatrics, Mamata Medical College and Hospital, Khammam, Telangana, India
  • Mohammed Ashraf Mohiddin Siddiq Department of Pediatrics, Mamata Medical College and Hospital, Khammam, Telangana, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20212490

Keywords:

Biotinidase deficiency, Seizures, Skin rash, Developmental delay, Alopecia

Abstract

Early biotinidase deficiency is an inherited form of multiple carboxylase deficiency leading to increased accumulation of biocytin and decreased biotin, predominantly effecting the central nervous system and skin. The symptoms can be reversed by early biotin supplementation.

Author Biography

Cheruku Rajesh, Department of Pediatrics, Mamata Medical College and Hospital, Khammam, Telangana, India

junior resident,department of paediatrics,mamata medical college and hospital,khammam.

References

Burri BJ, Sweetman L, Nyhan WL. Mutant holocarboxylasesynthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. J clin investigation. 1981;68:6.

Wolf B, Heard GS, Weissbecker KA, McVoy JR, Grier RE, Leshner RT. Biotinidase deficiency: initial clinical features and rapid diagnosis. Ann Neurol. 1985;18:614-7.

Bandaralage SPS, Farnaghi S, Dulhunty JM, Kothari A. Antenatal and postnatal radiologic diagnosis of holocarboxylasesynthetase deficiency: a systematic review. Pediatr Radiol. 2016;46(3):357-64.

Malvagia S, Morrone A, Pasquini E, Funghini S, Donati MA. First prenatal molecular diagnosis in a family with holocarboxylasesynthetase deficiency. Prenatal Diag. 2005;25(12):1117-9.

Sakamoto O, Suzuki Y, Li X, Aoki Y, Hiratsuka M, Holme E, et al. Diagnosis and molecular analysis of an atypical case of holocarboxylasesynthetase deficiency. Eur J Pediatr. 2000;159(1-2):18-22.

Slavin TP, Zaidi SJ, Neal C, Nishikawa B, Seaver LH. Clinical presentation and positive outcome of two siblings with holocarboxylasesynthetase deficiency caused by a homozygous L216R mutation. JIMD Rep. 2013;12:109-14.

Oleg A. Shchelochkov, Irini Manoli, and Charles P. Venditti: chapter 103.6 Isoleucine, Leucine, Valine, and Related Organic Acidemias; In: Kliegman, Stanton, St Geme, Schor (eds). Nelson Textbook of Pediatrics, volume 1,21st edition (international edition) 2020:711-9.

Narayan SB, Jones PM, Bennett MJ. Seizures and Vertigo in a Young Infant. Laboratory Med. 2003;34(3):190-2.

Suchy SF, McVoy JS, Wolf B. Neurologic symptoms of biotinidase deficiency: Possible explanation. Neurology. 1985;35:1510-1.

Rezvani I. Defects in metabolism of amino acids: Multiple carboxylase deficiencies (defects in utilization of biotin) In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, editors. Nelson Textbook of Pediatrics. 18th ed. Vol. 1. Philadelphia: Saunders Elsevier. 2007;542-3.

Wolf B. Biotinidase Deficiency In: Adam MP, Ardinger HH, Pagon RA editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1322/. Accessed on 10 January, 2021.

Downloads

Published

2021-06-24

Issue

Section

Case Reports