Arginase deficiency is an urea cycle disorder that generally presents with mental retardation and spasticity, yet uncommonly with episodes of hyperammonemia. A female adolescent with arginase deficiency developed hyperammonemic episodes temporally related to her menstrual cycle, which ceased upon adequate treatment with depot medroxy progesterone acetate. A similar case was previously reported. A catamenial trigger should be considered in adolescent female arginase-deficient patients with episodes of hyperammonemia.
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Validation and Optimization of a Stable Isotope-Labeled Substrate Assay for Measuring AGAT Activity.
Int J Mol Sci
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Department of Biochemistry, University of Toronto, Toronto, ON M5S 1A1, Canada.
L-arginine: glycine amidinotransferase (AGAT) gained academic interest as the rate-limiting enzyme in creatine biosynthesis and its role in the regulation of creatine homeostasis. Of clinical relevance is the diagnosis of patients with AGAT deficiency but also the potential role of AGAT as therapeutic target for the treatment of another creatine deficiency syndrome, guanidinoacetate N-methyltransferase (GAMT) deficiency. Applying a stable isotope-labeled substrate method, we utilized ARG 15N (ARG-δ2) and GLY 13C15N (GLY-δ3) to determine the rate of 1,2-13C,15N guanidinoacetate (GAA-δ5) formation to assess AGAT activity in various mouse tissue samples and human-derived cells.
View Article and Find Full Text PDFArginase-II gene deficiency reduces skeletal muscle aging in mice.
Aging (Albany NY)
December 2024
Department of Endocrinology, Metabolism, and Cardiovascular System, Faculty of Science and Medicine, University of Fribourg, Fribourg 1700, Switzerland.
Age-associated sarcopenia decreases mobility and is promoted by cell senescence, inflammation, and fibrosis. The mitochondrial enzyme arginase-II (Arg-II) plays a causal role in aging and age-associated diseases. Therefore, we aim to explore the role of Arg-II in age-associated decline of physical activity and skeletal muscle aging in a mouse model.
View Article and Find Full Text PDFACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics.
Genet Med Open
January 2024
Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Article Synopsis
- The study focuses on Arginase 1 (ARG1) deficiency, which leads to high levels of arginine in the blood and neurological issues, highlighting the need for better variant classification.
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Potential role of ARG1 c.57G > A variant in Argininemia.
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Pediatric Endocrinology and Inherited Metabolic Department, Guangdong Women and Children Hospital, Guangzhou, 511442, Guangdong, China.
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CD71 erythroid cells promote multiple myeloma progression and impair anti-bacterial immune response.
Br J Haematol
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Laboratory of Experimental Medicine, Medical University of Warsaw, Warsaw, Poland.
Multiple myeloma (MM), one of the most frequent haematological malignancies, significantly increases the risk of bacterial infections due to treatment-related side effects, comorbidities and cancer-induced immune deficiencies. Recently, CD71 erythroid cells (CECs) have been identified as key immunomodulators in neonates and cancer patients, but their role in MM progression remains unclear. Using a murine MM model, closely resembling human disease, we observed that MM progression is associated with anaemia and an increase in immature CECs, which are characterized by elevated arginase 2 (ARG2) expression.
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