ReviewMovement disorders clinical practice2023
Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia.
Review in Movement disorders clinical practice, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.Journal of inherited metabolic disease · 2026Article
- The Genetic Landscape of Hereditary Spastic Paraplegia in Greece.Clinical genetics · 2026Article
- Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.Journal of inherited metabolic disease · 2026Article
- Exploration of Canarium odontophyllum fruit phytoconstituents as potential candidates against epilepsy using in silico studies.Journal, genetic engineering & biotechnology · 2025Article
- 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
- Investigation of the Molecular Mechanism of Asthma in Meishan Pigs Using Multi-Omics Analysis.Animals : an open access journal from MDPI · 2025Article
- Therapeutic potential of natural arginase modulators: mechanisms, challenges, and future directions.Frontiers in pharmacology · 2025Review
- Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report.SAGE open medical case reports · 2023Article
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 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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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.