Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations

Galactosemia is an autosomal recessive inherited disease of galactose metabolism. In this report, a galactosemia case with unusual presentation has been presented. We reported a child boy with galactosemia presented with arthralgia, hands deformity and decreased bone mineral density.

Detalles Bibliográficos
Autores principales: Gorial, Faiq I., Mohammed, Maab Jasim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Mediterranean Journal of Rheumatology (MJR) 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045964/
https://www.ncbi.nlm.nih.gov/pubmed/32185352
http://dx.doi.org/10.31138/mjr.30.2.123
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author Gorial, Faiq I.
Mohammed, Maab Jasim
author_facet Gorial, Faiq I.
Mohammed, Maab Jasim
author_sort Gorial, Faiq I.
collection PubMed
description Galactosemia is an autosomal recessive inherited disease of galactose metabolism. In this report, a galactosemia case with unusual presentation has been presented. We reported a child boy with galactosemia presented with arthralgia, hands deformity and decreased bone mineral density.
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spelling pubmed-70459642020-03-17 Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations Gorial, Faiq I. Mohammed, Maab Jasim Mediterr J Rheumatol Case Report Galactosemia is an autosomal recessive inherited disease of galactose metabolism. In this report, a galactosemia case with unusual presentation has been presented. We reported a child boy with galactosemia presented with arthralgia, hands deformity and decreased bone mineral density. The Mediterranean Journal of Rheumatology (MJR) 2019-06-29 /pmc/articles/PMC7045964/ /pubmed/32185352 http://dx.doi.org/10.31138/mjr.30.2.123 Text en © 2019 The Mediterranean Journal of Rheumatology (MJR) http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
spellingShingle Case Report
Gorial, Faiq I.
Mohammed, Maab Jasim
Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations
title Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations
title_full Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations
title_fullStr Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations
title_full_unstemmed Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations
title_short Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations
title_sort unusual presentation of galactosemia in a child: musculoskeletal manifestations
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045964/
https://www.ncbi.nlm.nih.gov/pubmed/32185352
http://dx.doi.org/10.31138/mjr.30.2.123
work_keys_str_mv AT gorialfaiqi unusualpresentationofgalactosemiainachildmusculoskeletalmanifestations
AT mohammedmaabjasim unusualpresentationofgalactosemiainachildmusculoskeletalmanifestations

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