Clinical Features and Neurologic Progression of Hyperargininemia

Carvalho, Daniel R.; Brum, Jaime Moritz; Speck‐Martins, Carlos E.; Ventura, Fabrício D.; Navarro, Monica M.; Coelho, Kátia E.F.A.; Portugal, Dalton; Pratesi, Riccardo

doi:10.1016/j.pediatrneurol.2012.03.016

Cited by 51 publications

(79 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Failure to thrive is often one of the first symptoms, and growth retardation or short stature is evident in many patients (Cederbaum et al 1977; Crombez and Cederbaum 2005;Carvalho et al 2012b). Microcephaly has been reported in up to 40 % of patients (Prasad et al 1997;Carvalho et al 2012b).…”

Section: Clinical Characteristicsmentioning

confidence: 99%

“…Patients may present with irritability, nausea, vomiting, or anorexia, probably representing intermittent or chronic hyperammonemia. Spontaneous avoidance of high-protein foods is frequently observed (Carvalho et al 2012b).…”

Section: Clinical Characteristicsmentioning

confidence: 99%

“…Arginase 1 deficiency has occasionally been misdiagnosed as cerebral palsy (Scheuerle et al 1993;Prasad et al 1997), and a late presentation of acute-onset paraplegia at adult age has also been reported (Cowley et al 1998). Furthermore, ataxia and dystonia have been observed in a few patients (Crombez and Cederbaum 2005; Scaglia and Lee 2006;De Deyn et al 1997;Carvalho et al 2012b).…”

Section: Clinical Characteristicsmentioning

confidence: 99%

“…Most patients show some degree of cognitive impairment, and both loss of developmental milestones and severe intellectual disability may occur ( Crombez and Cederbaum 2005;Carvalho et al 2012b;Prasad et al 1997).…”

Section: Clinical Characteristicsmentioning

confidence: 99%

See 3 more Smart Citations

Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature

et al. 2015

View full text Add to dashboard Cite

Hyperargininemia is caused by deficiency of arginase 1, which catalyzes the hydrolysis of L-arginine to urea as the final enzyme in the urea cycle. In contrast to other urea cycle defects, arginase 1 deficiency usually does not cause catastrophic neonatal hyperammonemia but rather presents with progressive neurological symptoms including seizures and spastic paraplegia in the first years of life and hepatic pathology, such as neonatal cholestasis, acute liver failure, or liver fibrosis. Some patients have developed hepatocellular carcinoma. A usually mild or moderate hyperammonemia may occur at any age. The pathogenesis of arginase I deficiency is yet not fully understood. However, the accumulation of L-arginine and the resulting abnormalities in the metabolism of guanidine compounds and nitric oxide have been proposed to play a major pathophysiological role. This article provides an update on the first patients ever described, gives an overview of the distinct clinical characteristics, biochemical as well as genetical background and discusses treatment options.

show abstract

Section: Clinical Characteristicsmentioning

confidence: 99%

Section: Clinical Characteristicsmentioning

confidence: 99%

Section: Clinical Characteristicsmentioning

confidence: 99%

Section: Clinical Characteristicsmentioning

confidence: 99%

See 2 more Smart Citations

Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature

et al. 2015

View full text Add to dashboard Cite

show abstract

“…Other disturbs in the urea cycle can already be identified in the neonatal period or in the beginning of childhood just by the neurological clinical sign appearance. However, in the hyperargininemia, these signs generally do not appear prematurely [4,5].…”

mentioning

confidence: 98%

Untitled

2018

Int J Neurol Neurother

View full text Add to dashboard Cite

Objectives: To demonstrate what are the main neurological dysfunctions within the hyperargininemia and other aspects of the disease in order to provide knowledgement and an update on the issue. Methods:We conducted a literature search on reliable databases (PubMed/MEDLINE, Scielo/LILACS and UptoDate) from 1960 to 2018. The selection considered the most relevant articles, including 49 papers and 1 book for this narrative literature review.Results: Each of the selected materials was studied aiming to the formation of a cohesive and clear article. The main topics were sequenced in: clinical manifestations, diagnosis, genetics, and treatment.Conclusions: Hyperargininemia is a rare and underdiagnosed disease, but it is benign due to unusual severe hyperammonemia. The main clinical signs are neurological, such as spasticity, ataxia, hyperreflexia, incoordination, paresis, bilateral Babinski sign, tremor and seizures. The initial suspicion occurs with retraction of the Achilles tendon and spasticity. The therapy focus into reducing plasma levels of arginine and maintain a normal ammonia plasmatic concentration.

show abstract

Arginase deficiency—An unheralded cause of developmental epileptic encephalopathy

Pavuluri,

Jose,

Fasaludeen

et al. 2023

Epileptic Disorders

View full text Add to dashboard Cite

Arginase deficiency, which leads to hyperargininaemia is a rare urea cycle disorder caused by a mutation in the ARG1 gene. It is an under‐recognized cause of pediatric developmental epileptic encephalopathy, with the key coexistent clinical features being developmental delay or regression and spasticity. Detection of ARG1 gene mutation on genetic testing is the confirmatory diagnostic test. However, elevated levels of plasma arginine and low plasma arginase level can be considered as biochemical markers for diagnosis. We present two cases of arginase deficiency with genetically confirmed ARG1 mutation in one and biochemical confirmation in both. As the spectrum of epilepsy in arginase deficiency has been less explored, we attempted to elucidate the novel electroclinical features and syndromic presentations in these patients. Informed consent was obtained from families of patients. Electroclinical diagnosis was consistent with Lennox Gastaut syndrome (LGS) in the first patient while the second patient had refractory atonic seizures with electrophysiological features consistent with developmental and epileptic encephalopathy. Though primary hyperammonaemia is not a consistent feature, secondary hyperammonaemia in the setting of infectious triggers and drugs like valproate (valproate sensitivity) has been well described as also observed in our patient. In the absence of an overt antecedent in a child with spasticity and seizure disorder, with a progressive course consistent with a developmental epileptic encephalopathy, arginase deficiency merits consideration. Diagnosis often has important therapeutic implications with respect to dietary management and choice of the appropriate antiseizure medications.

show abstract

Clinical Features and Neurologic Progression of Hyperargininemia

Cited by 51 publications

References 18 publications

Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature

Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature

Untitled

Arginase deficiency—An unheralded cause of developmental epileptic encephalopathy

Contact Info

Product

Resources

About