This is a new website for families dealing with N-glycanase deficiency.
N-glycanase deficiency is caused by errors in the NGLY1 gene. NGLY1 encodes the production of the enzyme N-glycanase, which is essential for the degradation of misfolded, N-linked glycoproteins within cells throughout the body.
N-glycanase is a highly conserved protein, meaning that it is essential across species. Even yeast need a form of N-glycanase to function properly.
Researchers are just now learning what this enzyme does in humans.
In June 2012, our son Bertrand was the first case of an NGLY1 disorder published in medical literature.
We're hoping to find treatments for N-glycanase deficiency within our son's lifetime. To that end, we have funded research at Sanford-Burnham Medical Research Institute (SBMRI) into better understanding the condition and testing potential off-label treatments.
Recently, other cases of N-glycanase deficiency have come to light.
We hope to connect NGLY1 families together for support, research, discovery, and some day a cure.
N-glycanase deficiency is caused by errors in the NGLY1 gene. NGLY1 encodes the production of the enzyme N-glycanase, which is essential for the degradation of misfolded, N-linked glycoproteins within cells throughout the body.
N-glycanase is a highly conserved protein, meaning that it is essential across species. Even yeast need a form of N-glycanase to function properly.
Researchers are just now learning what this enzyme does in humans.
In June 2012, our son Bertrand was the first case of an NGLY1 disorder published in medical literature.
We're hoping to find treatments for N-glycanase deficiency within our son's lifetime. To that end, we have funded research at Sanford-Burnham Medical Research Institute (SBMRI) into better understanding the condition and testing potential off-label treatments.
Recently, other cases of N-glycanase deficiency have come to light.
We hope to connect NGLY1 families together for support, research, discovery, and some day a cure.
