Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD)

Cai, Xiaoxiao; Yu, Dan; Xie, Yongmei; Zhou, Hui

doi:10.1097/md.0000000000009880

Cited by 4 publications

(4 citation statements)

References 25 publications

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“…Currently, it is characterized by scissors gait. Cai et al [ 10 ] reported a case of peripheral nerve damage, demonstrating it is one of the neurologic impairments of argininemia. In our patient, a peripheral nerve examination revealed mildly reduced MCV of bilateral tibial nerve.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2020

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Introduction: Arginineemia, also known as arginase deficiency, is a rare autosomal recessive metabolic disease. The diagnosis sometimes may be delayed due to atypical clinical manifestations. Confirmation of arginineemia depends on genetic testing. Patient concerns: We reported a Chinese male child presenting with hyperargininemia and progressive spastic diplegia, who has a novel compound heterozygous mutation in the arginase-1 ( ARG1 ) gene (c.263-266delAGAA, p.K88Rfs ∗ 45;c.674T>C,p.L216P), respectively, coming from his mother and father. Diagnosis: The patient was diagnosed with argininemia with a novel compound homozygous mutation of the ARG1 gene at the age of 12 years. Interventions: The patient had a low-protein diet (0.8 g/kg/day). Baclofen, eperisone hydrochloride, botulinum toxin, and rehabilitation training were used to improve his spastic diplegia symptoms for 3 months. Outcomes: The patient's blood arginine was still high after 3 months’ low-protein diet. His spastic diplegia symptoms had not aggravated after 3 months’ treatment. Conclusions: Argininemia should be considered in a patient with slowly progressive neurologic manifestations, especially spastic diplegia. This case also suggests that tandem mass spectrometry should be used as an effective tool in the validity of neonatal screening for early diagnosis.

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Section: Discussionmentioning

confidence: 99%

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

et al. 2020

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“…Adult-onset cases have also been reported [25,26]. During early childhood (3 months-4 years), patients may be of short stature and exhibit clumsiness, psychomotor impairment, loss of developmental milestones, global developmental delay, and regression after initial normal neurodevelopment [27,28]. Loss of bowel and bladder control can also occur [29].…”

Section: Clinical Manifestations and Physical Historymentioning

confidence: 99%

Argininemia: Pathophysiology and Novel Methods for Evaluation of the Disease

Nteli,

Konstantinidis

et al. 2024

Applied Sciences

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Argininemia or arginase-1 deficiency constitutes a rare, genetic, metabolic disorder caused by mutations in arginase 1—the last enzyme of the urea cycle—that hydrolyses L-arginine to ornithine and urea. The disease is associated with progressive development of spasticity and other symptoms, including seizures, developmental delay, cognitive impairment, and hepatic pathology. The present review attempts to summarize the current knowledge on the pathophysiology of the disease and highlight novel methods for its evaluation. Different factors, such as the accumulation of arginine, ammonia, and guanidino compounds, act as neurotoxins and may account for the neurological sequelae observed in the disease. New markers, such as arginine/ornithine ratio along with metabolomics, machine learning algorithms, and genetic methods, can be useful in the early diagnosis of argininemia, while mobile phone apps can assist argininemic patients in adhering to the strict diet required. Neurophysiology, multi-modal imaging, and new modelling methods, such as induced pluripotent stem cells, hold promise for providing new insights into the pathophysiology of the disease. There are still many uncertainties regarding the underlying mechanisms of argininemia, but the use of novel modelling methods and new technology can lead to the decipherment of its pathophysiology, improvement of diagnostic accuracy, and better disease management.

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“…2,4,13 ARG1-D can be misdiagnosed as other neurological diseases such as cerebral palsy or hereditary spastic paraplegia due to similarities in clinical presentation. 3,14 Delays in diagnosis of ARG1-D are also common. 15,16 These delays are largely due to a lack of disease awareness combined with the variability in disease manifestation.…”

Section: Introductionmentioning

confidence: 99%

“…ARG1‐D can be misdiagnosed as other neurological diseases such as cerebral palsy or hereditary spastic paraplegia due to similarities in clinical presentation 3,14 . Delays in diagnosis of ARG1‐D are also common 15,16 .…”

Section: Introductionmentioning

confidence: 99%

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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Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD)

Cited by 4 publications

References 25 publications

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

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

Argininemia: Pathophysiology and Novel Methods for Evaluation of the Disease

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

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