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Argininosuccinic aciduria

Definition:

Arginosuccinicaciduria (ARGINSA) is an autosomal recessive disorder of the urea cycle that is caused by defects in argininosuccinate lyase. ARGINSA is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness.

References:

[1]. Faiqa Imtiaz, et al. Novel mutations underlying argininosuccinic aciduria in Saudi Arabia. BMC Res Notes. 2010 Mar 18;3:79. [Content Brief]

[2]. Sandesh C S Nagamani, et al. Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. Am J Hum Genet. 2012 May 4;90(5):836-46. [Content Brief]

[3]. Urea Cycle Disorders Conference group., et al. Consensus statement from a conference for the management of patients with urea cycle disorders. J Pediatr. 2001 Jan;138(1 Suppl):S1-5. [Content Brief]

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