NGLY1 Deficiency , Lucas Kolasa
[2]

Bertrand
12/09/2007 - 10/23/2020

He will be remembered as a boy who loved to smile and make others laugh, the world’s best
daddy to his pet fish, a lover of music, lights, and Elmo, and someone skilled at snuggling and
cheering others up.
~Christina, Bertrand’s Mom

NGLY1 Deficiency

NGLY1 deficiency (or N Glycanase deficiency) is an extremely rare genetic disorder. Global
developmental delay, neurological impairment, movement disorder, and hypotonia are
characteristic features of N-Glycanse deficiency. Almost all patients have difficulty producing
tears and present abnormality on EEGs.

Artist: Lucas Kolasa

Exposé par :

Beyond the Diagnosis

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