Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia
| Autor: | Laurent Leuger, Guillaume Halley, Juan Manuel Chao de la Barca, Chadi Homedan, Delphine Mirebeau-Prunier, Mikael Moriconi, Xavier Donin de Rosière, Pascal Reynier, Xavier Dieu |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty ASLD hyperammonemia Urea cycle disorder Endocrinology Diabetes and Metabolism Case Report Late onset Case Reports QH426-470 Biochemistry Genetics and Molecular Biology (miscellaneous) Diseases of the endocrine glands. Clinical endocrinology Genetics Internal Medicine medicine argininosuccinate lyase deficiency Coma business.industry Hyperammonemia urea cycle disorders RC648-665 medicine.disease Argininosuccinic aciduria Hyperammonemic coma medicine.symptom Argininosuccinate lyase deficiency business |
| Zdroj: | JIMD Reports, Vol 62, Iss 1, Pp 44-48 (2021) JIMD Reports |
| ISSN: | 2192-8312 |
| DOI: | 10.1002/jmd2.12251 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text