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  • urea
  • Less common but important causes of elevated blood ammonia levels are the inherited urea cycle disorders (UCDs). (mja.com.au)
  • They are caused by dysfunction of any of the six enzymes or two transport proteins involved in urea biosynthesis, a process that predominantly occurs in the liver. (mja.com.au)
  • enzymes
  • Several issues must be addressed in configuring therapeutic strategies for this disorder: (a) affected infants must be identified and treatment commenced very early in life before irreparable neurodegeneration occurs, (b) the block in intestinal absorption of copper must be bypassed, (c) circulating copper must be delivered to the brain, and (d) copper must be available to enzymes within cells that require it as a cofactor. (bioportfolio.com)
  • acute
  • filariasis a group of infectious disorders caused by threadlike nematodes of the superfamily Filarioidea, that invade the subcutaneous tissues and lymphatics of mammals, producing reactions varying from acute inflammation to chronic scarring. (britannica.com)
  • therapeutic
  • This study, PKU-016, will be conducted in PKU patients to evaluate the therapeutic effects of sapropterin dihydrochloride on the symptoms of attention deficit hyperactivity disorder (ADHD), depression, and anxiety. (clinicaltrials.gov)
  • Dietary
  • Although for most PKU patients early initiation of dietary treatment prevents severe complications, discontinuation of dietary restrictions at an early age is associated with poor cognitive development and neuropsychiatric disorders are present even in early-treated and well controlled PKU patients. (clinicaltrials.gov)
  • restriction
  • These restrictions and supplementations are specific for each disorder, and they may include the restriction of total fats, simple sugars, or total carbohydrates. (encyclopedia.com)
  • deficits
  • Cognitive deficits in the autosomal dominant disorder Neurofibromatosis type 1 (NF1) typically consist of a lower than average IQ, impaired visual-spatial learning, attention problems and impaired executive functioning. (clinicaltrials.gov)
  • One of the key underlying mechanisms of these deficits is an increased gamma-aminobutyric acid (GABA)-ergic inhibition and a subsequent decrease in synaptic plasticity. (clinicaltrials.gov)