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Hyperargininemia: A Rare Diagnosis in Adulthood [PDF]
European Journal of Case Reports in Internal MedicineBackground: Hyperargininemia is a rare inherited metabolic disorder of the urea cycle with an autosomal recessive transmission. It occurs due to a deficiency of the enzyme arginase I and causes progressive neurological damage.
Carolina Freitas Henriques +4 more
exaly +8 more sources
Recent tPA Administration Can Cause Pseudo-Hyperargininemia and May Mimic Arginase Deficiency or Arginine Supplementation [PDF]
JIMD Reports, 2022 Individuals suspected of or diagnosed with a rare disorder, including inherited metabolic disorders (IMD), often need frequent and/or urgent vascular access for blood draws and treatment, making central indwelling catheters commonly used devices in this ...
Kristina P Cusmano-Ozog +2 more
exaly +4 more sources
Hyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian Children [PDF]
BMC Clinical Pathology, 2022 Objective: Hyperargininemia due to Arginase 1 deficiency is a rare inborn error of the urea cycle with an incidence estimated at 1:950 000. It has typical severe and progressive abnormal neurological features with biochemical findings of hyperargininemia
Anasufiza Habib
exaly +4 more sources
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family [PDF]
Frontiers in Neurology, 2020 Background: Arginases catalyze the last step in the urea cycle. Hyperargininemia, a rare autosomal-recessive disorder of the urea cycle, presents after the first year of age with regression of milestones and evolves gradually into progressive spastic ...
Liena E. O. Elsayed +21 more
doaj +3 more sources
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia [PDF]
Molecular Genetics and Metabolism Reports, 2021 Arginase deficiency is a rare inborn error of metabolism that interrupts the final step of the urea cycle. Untreated individuals often present with episodic hyperammonemia, developmental delay, cognitive impairment, and spasticity in early childhood. The
Yue Huang +14 more
doaj +2 more sources
The role and control of arginine levels in arginase 1 deficiency. [PDF]
J Inherit Metab Dis, 2023 Abstract Arginase 1 Deficiency (ARG1‐D) is a rare urea cycle disorder that results in persistent hyperargininemia and a distinct, progressive neurologic phenotype involving developmental delay, intellectual disability, and spasticity, predominantly affecting the lower limbs and leading to mobility impairment.
Diaz GA, Bechter M, Cederbaum SD.
europepmc +2 more sources
Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report [PDF]
SAGE Open Medical Case Reports, 2023 Arginase deficiency is a progressive neurological disorder characterized by episodic hyperammonemia crises. Our patient had been diagnosed with cerebral palsy (spastic paraplegia) in childhood and received rehabilitation.
Noboru Kuyama +5 more
doaj +2 more sources
JIMD Reports, 2022 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.
Aseel Bin Sawad +7 more
doaj +2 more sources
Phenotypic pleiotropy in arginase deficiency: A single center cohort [PDF]
Annals of Indian Academy of Neurology, 2022 Background: Arginase deficiency is considered a masquerader of diplegic cerebral palsy. The rarity of hyperammonemic crisis and the slowly progressive course has made it a unique entity among the urea cycle defects. Objectives: The aim of our study is to
Narmadham K Bharathi +5 more
doaj +2 more sources
Current status of surviving patients with arginase 1 deficiency in Japan [PDF]
Molecular Genetics and Metabolism Reports, 2021 Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD), with an estimated frequency of 1 per 2,200,000 births in Japan. Patients with ARG1 deficiency develop symptoms in late infancy or pre-school age with progressive neurological ...
Jun Kido +10 more
doaj +2 more sources