View Main Condition: Urea Cycle Disorders (UCD)
Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
Mutations in the ARG1 gene cause arginase deficiency.
Arginase deficiency is a very rare disorder; it has been estimated to occur once in every 300,000 to 1,000,000 individuals.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Andreas Schulze practices in Toronto, Canada. Schulze is rated as an Elite expert by MediFind in the treatment of Arginase Deficiency. He is also highly rated in 9 other conditions, according to our data. His top areas of expertise are Arginase Deficiency, Urea Cycle Disorders (UCD), Guanidinoacetate Methyltransferase Deficiency, and X-Linked Creatine Deficiency.
George Diaz is a Pediatrics specialist and a Medical Genetics expert in New York, New York. Diaz has been practicing medicine for over 29 years and is rated as an Elite expert by MediFind in the treatment of Arginase Deficiency. He is also highly rated in 16 other conditions, according to our data. His top areas of expertise are Urea Cycle Disorders (UCD), Arginase Deficiency, Acid Sphingomyelinase Deficiency (ASMD), and Argininosuccinic Aciduria. Diaz is currently accepting new patients.
Roberto Zori is a Medical Genetics expert in Gainesville, Florida. Zori has been practicing medicine for over 44 years and is rated as an Elite expert by MediFind in the treatment of Arginase Deficiency. He is also highly rated in 3 other conditions, according to our data. His top areas of expertise are Phenylketonuria (PKU), Arginase Deficiency, Urea Cycle Disorders (UCD), and Microphthalmia. Zori is currently accepting new patients.
Summary: Different studies have suggested that COPD is associated with elevated alveolar NO and increased expression of NOS2 in alveolar walls, small airway epithelium and vascular smooth muscle. Furthermore, arginase activity in COPD is shown to correlate inversely with total NO metabolite in sputum and with pre- and post- bronchodilator FEV1; at the same time ADMA levels in serum is shown to be correlate...
Summary: This is an open-label, multicenter study to evaluate the safety of weekly SC administration of pegzilarginase over 12 months in subjects with ARG1-D. The study consists of a screening period of up to 4 weeks, a subsequent 12-month treatment period, and a Safety Follow-Up Visit 2 weeks after the last treatment.
Published Date: August 01, 2013Published By: National Institutes of Health
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