Alkaptonuria: an Inborn Metabolism Error that Challenges Pediatric Clinical Practice

Main Article Content

Yulys Carolina Redondo Meza
Cristina Muñoz Otero
Tatiana Alvarado Carrillo

Abstract

Alkaptonuria is a hereditary disease of autosomal recessive type that affects the tyrosine catabolism and is characterized by the presence of homogentisic acid in both urine and blood. This report presents the case of a patient diagnosed with alkaptonuria when he was already 12 years old. This case report points out the importance of an early and timely treatment of patients suffering from this condition in order to prevent later complications.

Downloads

Download data is not yet available.

Article Details

How to Cite
Redondo Meza, Y. C., Muñoz Otero, C., & Carrillo, T. A. (2017). Alkaptonuria: an Inborn Metabolism Error that Challenges Pediatric Clinical Practice. Pediatría, 50(4). https://doi.org/10.14295/pediatr.v50i4.81
Section
Case report

References

1. Introne WJ, Gahl W. Alkaptonuria. https://www.ncbi.nlm.nih.gov/books/NBK1454/ (Fecha de consulta: 19 de Dciembre, 2017).

2. Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, et al. Natural History of Alkaptonuria.N Engl J Med 2002;347:2111–21.

3. Mistry JB, Bukhari M, Taylor AM. Alkaptonuria. Rare disease Review. https://www.ncbi.nlm.nih.gov/pubmed/25003018 (Fecha de consulta: 19 de Diciembre, 2017).

4. Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, O’Brien K, Kleta R, Huizing M, Gahl WA. Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Hum Mutat 2009; 30:1611-9.

5. Ranganath L, Taylor AM, Shenkin A, Fraser WD, Jarvis J, Gallagher JA, Sireau N. Identification of alkaptonuria in the general population: a United Kingdom experience describing the challenges, possible solutions and persistent barriers. J Inherit Metab Dis 2011;34:723-30.

6. Piro A, Tagarelli G, Lagonia P, Quatronne A, Tagarelli A. Archibald Edward Garrod and Alcaptonuria: “Inborn errors of metabolism”. Genet Med 2010;12:475-76.

Most read articles by the same author(s)

Similar Articles

<< < 8 9 10 11 12 13 14 15 16 17 > >> 

You may also start an advanced similarity search for this article.