Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia

Abstract Argininosuccinate lyase deficiency (ASLD, MIM #207900) is an inherited urea cycle disorder. There are mainly two clinical forms, an acute neonatal form which manifests as life‐threatening hyperammonemia, and a late‐onset form characterised by polymorphic neuro‐cognitive or psychiatric prese...

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Autores principales:	Laurent Leuger, Xavier Dieu, Juan Manuel Chao de la Barca, Mikael Moriconi, Guillaume Halley, Xavier Donin de Rosière, Pascal Reynier, Delphine Mirebeau‐Prunier, Chadi Homedan
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	argininosuccinate lyase deficiency ASLD hyperammonemia urea cycle disorders Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/752650dca1c245a684f60b906448d54f
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spelling	oai:doaj.org-article:752650dca1c245a684f60b906448d54f2021-11-08T13:27:18ZLate‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia2192-831210.1002/jmd2.12251https://doaj.org/article/752650dca1c245a684f60b906448d54f2021-11-01T00:00:00Zhttps://doi.org/10.1002/jmd2.12251https://doaj.org/toc/2192-8312Abstract Argininosuccinate lyase deficiency (ASLD, MIM #207900) is an inherited urea cycle disorder. There are mainly two clinical forms, an acute neonatal form which manifests as life‐threatening hyperammonemia, and a late‐onset form characterised by polymorphic neuro‐cognitive or psychiatric presentation with transient hyperammonemia episodes. Here, we report a late‐onset case of ASLD in a 72‐year‐old man carrying a homozygous pathogenic variant in the exon 16 of the ASL gene, presenting for the first time with fatal hyperammonemic coma. This case report shows the need to systematically carry out an ammonia assay when faced with an unexplained coma.Laurent LeugerXavier DieuJuan Manuel Chao de la BarcaMikael MoriconiGuillaume HalleyXavier Donin de RosièrePascal ReynierDelphine Mirebeau‐PrunierChadi HomedanWileyarticleargininosuccinate lyase deficiencyASLDhyperammonemiaurea cycle disordersDiseases of the endocrine glands. Clinical endocrinologyRC648-665GeneticsQH426-470ENJIMD Reports, Vol 62, Iss 1, Pp 44-48 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	argininosuccinate lyase deficiency ASLD hyperammonemia urea cycle disorders Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
spellingShingle	argininosuccinate lyase deficiency ASLD hyperammonemia urea cycle disorders Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470 Laurent Leuger Xavier Dieu Juan Manuel Chao de la Barca Mikael Moriconi Guillaume Halley Xavier Donin de Rosière Pascal Reynier Delphine Mirebeau‐Prunier Chadi Homedan Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia
description	Abstract Argininosuccinate lyase deficiency (ASLD, MIM #207900) is an inherited urea cycle disorder. There are mainly two clinical forms, an acute neonatal form which manifests as life‐threatening hyperammonemia, and a late‐onset form characterised by polymorphic neuro‐cognitive or psychiatric presentation with transient hyperammonemia episodes. Here, we report a late‐onset case of ASLD in a 72‐year‐old man carrying a homozygous pathogenic variant in the exon 16 of the ASL gene, presenting for the first time with fatal hyperammonemic coma. This case report shows the need to systematically carry out an ammonia assay when faced with an unexplained coma.
format	article
author	Laurent Leuger Xavier Dieu Juan Manuel Chao de la Barca Mikael Moriconi Guillaume Halley Xavier Donin de Rosière Pascal Reynier Delphine Mirebeau‐Prunier Chadi Homedan
author_facet	Laurent Leuger Xavier Dieu Juan Manuel Chao de la Barca Mikael Moriconi Guillaume Halley Xavier Donin de Rosière Pascal Reynier Delphine Mirebeau‐Prunier Chadi Homedan
author_sort	Laurent Leuger
title	Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia
title_short	Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia
title_full	Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia
title_fullStr	Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia
title_full_unstemmed	Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia
title_sort	late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/752650dca1c245a684f60b906448d54f
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Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia

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