Argininemia


Argininemia is caused by a mutation in the gene ARG, encoding liver arginase, which hydrolyses arginine to urea and ornithine in the last step of the urea cycle. A defect in liver arginase causes accumulation of ammonia in blood; arginine, creatine, guanidinoacetate, and homoarginine in plasma; urea nitrogen in serum; arginine and homoarginine in spinal fluid; and arginiosuccinate orotic acid, and uracil in urine. Symptoms include ataxia, cerebral atrophy, chorea, jaundice, and seizures.

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References

  1. OMIM: Entry 207800
  2. Metagene: id_d=60
  3. Cederbaum SD, Shaw KN, Valente M: Hyperargininemia. J Pediatr. 1977 Apr;90(4):569-73. Pubmed
  4. Christmann D, Hirsch E, Mutschler V, Collard M, Marescaux C, Colombo JP: [Late diagnosis of congenital argininemia during administration of sodium valproate] Rev Neurol (Paris). 1990;146(12):764-6. Pubmed
  5. Cowley DM, Bowling FG, McGill JJ, van Dongen J, Morris D: Adult-onset arginase deficiency. J Inherit Metab Dis. 1998 Aug;21(6):677-8. Pubmed