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

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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Bibliographic Details
Main Authors: 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
Format: article
Language:EN
Published: Wiley 2021
Subjects:
argininosuccinate lyase deficiency
ASLD
hyperammonemia
urea cycle disorders
Diseases of the endocrine glands. Clinical endocrinology
RC648-665
Genetics
QH426-470
Online Access:https://doaj.org/article/752650dca1c245a684f60b906448d54f
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https://doaj.org/article/752650dca1c245a684f60b906448d54f

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