Iminoglycinuria

Definition:

Iminoglycinuria is a benign condition characterized by the excretion of proline, hydroxyproline, and glycine in the urine. The disorder is of autosomal recessive inheritance and is genetically complex. Inactivation or reduced function of SLC36A2 (PAT-2) is the predominant determinant of the iminoglycinuria phenotype in humans. Mutations in SLC6A20 (SIT-1) and SLC6A19 (B0AT1) could also be the cause.

References:

[1]. Jessica M Vanslambrouck, et al. Renal imino acid and glycine transport system ontogeny and involvement in developmental iminoglycinuria. Biochem J. 2010 May 27;428(3):397-407. [Content Brief]

[2]. S M R Camargo, et al. Aminoacidurias: Clinical and molecular aspects. Kidney Int. 2008 Apr;73(8):918-25. [Content Brief]

[3]. Stefan Bröer, et al. Amino acid transport across mammalian intestinal and renal epithelia. Physiol Rev. 2008 Jan;88(1):249-86. [Content Brief]

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