Specific aminoacidurias have been instrumental in cloning the genes responsible for conditions like cystinuria (basic aminoaciduria) or Hartnup disorder (neutral aminoaciduria). For iminoglycinuria, candidate genes like SLC6A20 or SLC36A1 have been proposed to be causative. Heterologous expression of these gene’s products mediate uptake of proline and glycine (Takanaga et al. 2005; Miyauchi et al. 2005). We identified two patients with iminoglycinuria by serum and urine amino acid analyses showing typical elevations of fractional excretions of glycine, proline and hydroxyproline only (Coskun et al. 1991). Sequencing of all coding exons (including splice sites) of SLC6A20 and SLC36A1 showed surprisingly no disease causing mutations. We conclude that other amino acid transport genes might be responsible for iminoglycinuria.
University College London 2006 (2006) Proc Physiol Soc 3, PC18
Poster Communications: Iminoglycinuria is not caused by mutations in SLC6A20 or SLC36A1
Robert Kleta1, Turgay Coskun2, Bradford Tinloy1, Halil I. Aydin2, Meral Gunay-Aygun1, Horia Stanescu1, Isa Bernardini1, William A. Gahl1
1. SHBG, MGB, NHGRI, NIH, Bethesda, MD, USA. 2. Department of Pediatrics, Division of Pediatric Nutrition & Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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