Alkaptonuria: A case report

Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunc...

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Autores principales: Damarla, Nirupama, Linga, Prathima, Goyal, Mallika, Tadisina, Sanjay Reddy, Reddy, G Satyanarayana, Bommisetti, Hymavathi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5508465/
https://www.ncbi.nlm.nih.gov/pubmed/28643719
http://dx.doi.org/10.4103/ijo.IJO_337_16
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author Damarla, Nirupama
Linga, Prathima
Goyal, Mallika
Tadisina, Sanjay Reddy
Reddy, G Satyanarayana
Bommisetti, Hymavathi
author_facet Damarla, Nirupama
Linga, Prathima
Goyal, Mallika
Tadisina, Sanjay Reddy
Reddy, G Satyanarayana
Bommisetti, Hymavathi
author_sort Damarla, Nirupama
collection PubMed
description Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. In this case report, a 39-year-old Indian male patient with additional ocular features in the retina is described.
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spelling pubmed-55084652017-07-17 Alkaptonuria: A case report Damarla, Nirupama Linga, Prathima Goyal, Mallika Tadisina, Sanjay Reddy Reddy, G Satyanarayana Bommisetti, Hymavathi Indian J Ophthalmol Brief Communications Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. In this case report, a 39-year-old Indian male patient with additional ocular features in the retina is described. Medknow Publications & Media Pvt Ltd 2017-06 /pmc/articles/PMC5508465/ /pubmed/28643719 http://dx.doi.org/10.4103/ijo.IJO_337_16 Text en Copyright: © 2017 Indian Journal of Ophthalmology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Brief Communications
Damarla, Nirupama
Linga, Prathima
Goyal, Mallika
Tadisina, Sanjay Reddy
Reddy, G Satyanarayana
Bommisetti, Hymavathi
Alkaptonuria: A case report
title Alkaptonuria: A case report
title_full Alkaptonuria: A case report
title_fullStr Alkaptonuria: A case report
title_full_unstemmed Alkaptonuria: A case report
title_short Alkaptonuria: A case report
title_sort alkaptonuria: a case report
topic Brief Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5508465/
https://www.ncbi.nlm.nih.gov/pubmed/28643719
http://dx.doi.org/10.4103/ijo.IJO_337_16
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AT tadisinasanjayreddy alkaptonuriaacasereport
AT reddygsatyanarayana alkaptonuriaacasereport
AT bommisettihymavathi alkaptonuriaacasereport

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