A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese patient with argininemia

Cui, Dongqing; Liu, Yanxia; Jin, Liang; Hu, Liping; Cao, Lili

doi:10.1097/md.0000000000021634

Cited by 6 publications

(7 citation statements)

References 17 publications

(21 reference statements)

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“…An update of the searches to capture studies published since the date of the last search (April 20, 2020) to July 06, 2021 identified 6 new relevant case studies reporting 13 individual cases with ARG1 mutations. 30 , 31 , 32 , 33 , 34 , 35 The results from these studies were consistent with the main findings presented in this review and further support the burden of ARG1‐D and the need for effective treatments.…”

Section: Resultssupporting

confidence: 89%

Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reports

Sawad¹,

Pothukuchy²,

Badeaux³

et al. 2022

JIMD Reports

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Background: Arginase 1 deficiency (ARG1-D) is a rare, progressive and debilitating urea cycle disorder characterized by clinical manifestations including spasticity, seizures, developmental delay, and intellectual disability. The aim of this systematic review was to identify and summarize the natural history of ARG1-D and the unmet needs of patients. Methods: A comprehensive search of published case reports was undertaken to identify patients with ARG1-D regardless of interventions, comparisons, or outcomes. MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials, and other evidence-based medicine literature databases were searched on 20 April 2020. Quality was assessed using the Joanna Briggs Institute (JBI) Critical Appraisal Checklist. (PROSPERO registration: CRD42020212142.)Results: One hundred and fifty seven ARG1-D patients were included from 111 publications (good overall quality based on JBI's Checklist); 84 (53.5%) were males. Motor deficits (including spasticity), intellectual disability, and seizures were reported in >50% of the cases. Mean age (SD) at diagnosis was 6.4 years and the laboratory findings most commonly reported to support diagnosis included elevated plasma arginine (81.5%), mutation in ARG1 gene through genetic testing (60%), and absence/ reduction of red blood cell arginase activity (51%). Reported management approaches mainly included dietary protein restriction (68%), nitrogen scavengers (45%), and essential amino acid supplements (21%). Author-reported clinical improvement was documented for 26% of patients, 15% deteriorated, and 19% had limited or no change; notably, no indication of clinical outcome was reported for 40% cases. Conclusion:This review illustrates a significant burden of disease and highlights a considerable unmet need for clinically effective treatment options for patients with ARG1-D.

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Section: Resultssupporting

confidence: 89%

Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reports

Sawad¹,

Pothukuchy²,

Badeaux³

et al. 2022

JIMD Reports

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“…There is growing awareness in the literature surrounding the risk of missed or delayed diagnosis of ARG1‐D, and several reports include recommendations that IEMs, and ARG1‐D in particular, be considered in the differential diagnosis for patients with slowly progressing neurologic manifestations or neurologic regression, especially when progressive spasticity is present. 15 , 27 , 33 , 34 , 35 Specifically, the challenge of identifying ARG1‐D in patients with manifestations characteristic of HSP has been addressed. 25 Features suggesting ARG1‐D include pronounced worsening of spasticity and avoidance of high‐protein foods, but interestingly, the latter was not apparent in the patients described here.…”

Section: Literature Review and Discussionmentioning

confidence: 99%

Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia

McNutt

Foreman²,

Gotway

2022

Movement Disord Clin Pract

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Background Arginase 1 Deficiency (ARG1‐D) is a rare autosomal recessive urea cycle disorder (UCD) characterized by pathologic elevation of plasma arginine and debilitating manifestations. Based on clinical commonalities and low disease awareness, ARG1‐D can be diagnosed as hereditary spastic paraplegia (HSP), leading to treatment delays. Cases A Hispanic woman with unremarkable medical history experienced progressive lower‐limb spasticity in her 20s and received a diagnosis of HSP. She developed significant gait abnormalities and is unable to walk without assistance. More recently, two Hispanic brothers with childhood‐onset manifestations including lower‐limb spasticity, developmental delays, and seizures presented with suspected HSP. All three patients were ultimately diagnosed with ARG1‐D based on plasma arginine several‐fold above normal levels and loss‐of‐function ARG1 variants. Disease progression occurred before ARG1‐D was correctly diagnosed. Literature Review Retrospective analyses demonstrate that diagnostic delays in ARG1‐D are common and can be lengthy. Because of clinical similarities between ARG1‐D and HSP, such as insidious onset and progressive spasticity, accurate diagnosis of ARG1‐D is challenging. Timely ARG1‐D diagnosis is critical because this UCD is a treatable genetic cause of progressive lower‐limb spasticity. Conclusions Arginase 1 Deficiency should be considered in HSP differential diagnosis until biochemically/genetically excluded, and should be routinely included in HSP gene panels.

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“…Preliminary symptoms also include irritability, vomiting and feeding issues, and failure to thrive [ 1 ]. Hyperammonemia can occur but is usually less frequent and less severe when compared to other UCDs [ 4 ] .…”

Section: Introductionmentioning

confidence: 99%

Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence

Catsburg

Anderson

Upadhyaya³

et al. 2022

Orphanet J Rare Dis

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Background/objective Arginase 1 Deficiency (ARG1-D) is a rare inherited metabolic disease with progressive, devastating neurological manifestations with early mortality and high unmet need. Information on prevalence is scarce and highly variable due to limited newborn screening (NBS) availability, variability of arginine levels in the first days of life, and high rates of misdiagnosis. US birth prevalence was recently estimated via indirect methods at 1.1 cases per million live births. Due to the autosomal recessive nature of ARG1-D we hypothesize that the global prevalence may be more accurately estimated using genetic population databases. Methods MEDLINE and EMBASE were systematically searched for previously reported disease variants. Disease variants in ARG1-D were annotated wherever possible with allele frequencies from gnomAD. Ethnicity-specific prevalence was calculated using the Hardy–Weinberg equation and applied to generate country-specific carrier frequencies for 38 countries. Finally, documented consanguinity rates were applied to establish a birth prevalence for each country. Results 133 of 228 (58%) known causative alleles were annotated with ethnic-specific frequencies. Global birth prevalence for ARG1-D was estimated at 2.8 cases per million live births (country-specific estimates ranged from 0.92 to 17.5) and population prevalence to be 1.4 cases per million people (approximately 1/726,000 people). Birth prevalence estimates were dependent on population demographics and consanguinity rate. Conclusion Birth prevalence of ARG1-D based on genetic database analysis was estimated to be more frequent than previous NBS studies have indicated. There was a higher degree of confidence in North American and European countries due to availability of genetic databases and mutational analysis versus other regions. These findings suggest the need for greater disease education around signs and manifestations of ARG1-D, as well as more widespread testing and standardization of screening for this severe disease in order to appropriately identify patients prior to disease progression.

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A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese patient with argininemia

Cited by 6 publications

References 17 publications

Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reports

Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reports

Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia

Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence

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