Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report

Congenital generalized lipodystrophy type 1 (CGL1) is a very rare autosomal recessive genetic mutation with generalized lipoatrophy and metabolic complications. We report CGL1 in two Saudi female siblings with lipoatrophy, diabetes mellitus, hypertriglyceridemia, steatohepatitis, and acanthosis due...

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Autores principales: Hummadi, Abdulrrahman, Nahari, Ahmed Ali, Alhagawy, Ali Jaber, Zakri, Ibrahim, Abutaleb, Raed, Yafei, Saeed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9020436/
https://www.ncbi.nlm.nih.gov/pubmed/35474974
http://dx.doi.org/10.1002/ccr3.5720
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author Hummadi, Abdulrrahman
Nahari, Ahmed Ali
Alhagawy, Ali Jaber
Zakri, Ibrahim
Abutaleb, Raed
Yafei, Saeed
author_facet Hummadi, Abdulrrahman
Nahari, Ahmed Ali
Alhagawy, Ali Jaber
Zakri, Ibrahim
Abutaleb, Raed
Yafei, Saeed
author_sort Hummadi, Abdulrrahman
collection PubMed
description Congenital generalized lipodystrophy type 1 (CGL1) is a very rare autosomal recessive genetic mutation with generalized lipoatrophy and metabolic complications. We report CGL1 in two Saudi female siblings with lipoatrophy, diabetes mellitus, hypertriglyceridemia, steatohepatitis, and acanthosis due to very rare homozygous 1‐acylglycerol‐3‐phosphate O‐acyltransferase β (AGPAT2) genetic variant.
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spelling pubmed-90204362022-04-25 Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report Hummadi, Abdulrrahman Nahari, Ahmed Ali Alhagawy, Ali Jaber Zakri, Ibrahim Abutaleb, Raed Yafei, Saeed Clin Case Rep Case Reports Congenital generalized lipodystrophy type 1 (CGL1) is a very rare autosomal recessive genetic mutation with generalized lipoatrophy and metabolic complications. We report CGL1 in two Saudi female siblings with lipoatrophy, diabetes mellitus, hypertriglyceridemia, steatohepatitis, and acanthosis due to very rare homozygous 1‐acylglycerol‐3‐phosphate O‐acyltransferase β (AGPAT2) genetic variant. John Wiley and Sons Inc. 2022-04-20 /pmc/articles/PMC9020436/ /pubmed/35474974 http://dx.doi.org/10.1002/ccr3.5720 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Hummadi, Abdulrrahman
Nahari, Ahmed Ali
Alhagawy, Ali Jaber
Zakri, Ibrahim
Abutaleb, Raed
Yafei, Saeed
Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report
title Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report
title_full Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report
title_fullStr Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report
title_full_unstemmed Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report
title_short Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report
title_sort congenital generalized lipodystrophy in two siblings from saudi arabia: a case report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9020436/
https://www.ncbi.nlm.nih.gov/pubmed/35474974
http://dx.doi.org/10.1002/ccr3.5720
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