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Argininemia
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Argininemia is a disorder in which the clinical picture is quite different from the other disorers of the urea cycle. The picture is mostly that of progressive spastic diplegia or quadriplegia [1–4]. It was reported in 1965 by Serrano [1] and in 1969 by Terheggen and colleagues [2]. Evidence of protein aversion, often associated with anorexia, vomiting, and irritability is common in early childhood. The disease is caused by a virtually complete absence [5, 6] of the activity of arginase 1 (EC 3.5.3.1) (Figure 30.1). The human and rat genes have been cloned [7, 8]. The human gene ARG1 is located on chromosome 6 at band q23.2 [8]. Mutations have been heterogeneous [9–11] with correlation between the severity of the mutations and the degree of clinical symptoms [12, 13].
Inherited hyperammonemias: a Contemporary view on pathogenesis and diagnosis
Published in Expert Opinion on Orphan Drugs, 2018
Evelina Maines, Giovanni Piccoli, Antonia Pascarella, Francesca Colucci, Alberto B. Burlina
Hyperammonemia due to defects in ammonia detoxification is usually differentiated in two types. Primary hyperammonemia is due to loss-of-function defects of any of the urea cycle enzymes. These comprise three mitochondrial enzymatic defects (carbamoylphosphate synthetase 1 deficiency [CPS1D, OMIM #237300], ornithine transcarbamylase deficiency [OTCD, OMIM #311250], N-acetylglutamate synthase deficiency [NAGSD, OMIM #237310]), three cytosolic enzymatic defects (citrullinemia type 1 or argininosuccinate synthetase deficiency [ASSD, OMIM #215700], argininosuccinic aciduria or argininosuccinate lyase deficiency [ASLD, OMIM #207900], arginase 1 deficiency or argininemia [ARG1D, OMIM #207800]), and two mitochondrial transport defects (hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [HHH, OMIM #238970]) and citrullinemia type 2 or citrin deficiency (Citrin-D, OMIM #605814 and #603471) [4,5].