Gamma-Glutamyltransferase Deficiency


Gamma-Glutamyltransferase Deficiency is an autosomal recessive disorder caused by a mutation in the GGT1 gene which codes for gamma-glutamyltranspeptidase 1. A deficiency in this enzyme results in accumulation of L-cysteine, gamma-glutamylcysteine, and glutathione in urine. Symptoms, which present at birth, include tall stature, psychosis, and mental retardation.

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References

  1. OMIM: Entry 231950
  2. Uniprot: P19440
  3. Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (pp 46) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
  4. Hammond JW, Potter M, Wilcken B, Truscott R: Siblings with gamma-glutamyltransferase deficiency. J Inherit Metab Dis. 1995;18(1):82-3. Pubmed