JIMD Reports
(Nov 2021)
Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia
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
Affiliations
Laurent Leuger
Laboratoire de Biochimie et biologie moléculaire, Centre Hospitalier Universitaire d'Angers Angers Cedex 9 France
Xavier Dieu
Laboratoire de Biochimie et biologie moléculaire, Centre Hospitalier Universitaire d'Angers Angers Cedex 9 France
Juan Manuel Chao de la Barca
Laboratoire de Biochimie et biologie moléculaire, Centre Hospitalier Universitaire d'Angers Angers Cedex 9 France
Mikael Moriconi
Service de Réanimation Polyvalente et Unité de soins continus, Centre Hospitalier de Cornouaille Quimper Cedex France
Guillaume Halley
Service de Réanimation Polyvalente et Unité de soins continus, Centre Hospitalier de Cornouaille Quimper Cedex France
Xavier Donin de Rosière
Service de Médecine Polyvalente Ouest, Centre Hospitalier de Cornouaille Concarneau France
Pascal Reynier
Laboratoire de Biochimie et biologie moléculaire, Centre Hospitalier Universitaire d'Angers Angers Cedex 9 France
Delphine Mirebeau‐Prunier
Laboratoire de Biochimie et biologie moléculaire, Centre Hospitalier Universitaire d'Angers Angers Cedex 9 France
Chadi Homedan
Laboratoire de Biochimie et biologie moléculaire, Centre Hospitalier Universitaire d'Angers Angers Cedex 9 France
DOI
https://doi.org/10.1002/jmd2.12251
Journal volume & issue
Vol. 62,
no. 1
pp.
44
– 48
Abstract
Read online
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.
Keywords
Published in JIMD Reports
ISSN
2192-8304 (Print)
2192-8312 (Online)
Publisher
Wiley
Country of publisher
United Kingdom
LCC subjects
Medicine: Internal medicine: Specialties of internal medicine: Diseases of the endocrine glands. Clinical endocrinology
Science: Biology (General): Genetics
Website
https://onlinelibrary.wiley.com/journal/21928312
About the journal
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