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Case Reports
. 2021 Sep 26;62(1):44-48.
doi: 10.1002/jmd2.12251. eCollection 2021 Nov.

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

Laurent Leuger  1 , Xavier Dieu  1 , Juan Manuel Chao de la Barca  1 , Mikael Moriconi  2 , Guillaume Halley  2 , Xavier Donin de Rosière  3 , Pascal Reynier  1 , Delphine Mirebeau-Prunier  1 , Chadi Homedan  1
Affiliations
Case Reports

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

Laurent Leuger et al. JIMD Rep. .

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: ASLD; argininosuccinate lyase deficiency; hyperammonemia; urea cycle disorders.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

FIGURE 1
FIGURE 1
(A) Urea cycle. NAGS: N‐acetylglutamate synthase; CPS 1: carbamoyl phosphate synthetase 1; OTC: ornithine transcarbamylase; ARG: arginase. Patient's parameters in plasma (p) and in urine (u) are marked in black and bold. (B) Citrulline‐NO cycle. ASS: argininosuccinate synthetase; ASL: argininosuccinate lyase; NOS: nitric oxide synthase
See this image and copyright information in PMC

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