Histidinemia

Definition:

Histidinemia is an autosomal recessive disorder resulting from histidase deficiency.

References:

[1]. K Virmani, et al. Histidinemia: a biochemical variant or a disease?. J Am Coll Nutr. 1993 Apr;12(2):115-24. [Content Brief]

[2]. Yoko Kawai, et al. Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene. Hum Genet. 2005 Apr;116(5):340-6. [Content Brief]

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