ArticleMedicine2020
A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese patient with argininemia: A case report.
Article in Medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Arginase 1 deficiency: a treatable form of spastic paraplegia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics.Genetics in medicine open · 2024Article
- Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia.Movement disorders clinical practice · 2023Review
- Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reports.JIMD reports · 2022Article
- Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence.Orphanet journal of rare diseases · 2022Article
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Authors and funding
5 authors at 1 institution in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionArginineemia, 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.K88Rfs45;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.
interventionsThe 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.
conclusionsArgininemia 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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