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Deficiency of N-glycanase 1 (NGLY1 deficiency) is a complex neurological syndrome in which there is a deficiency of an enzyme known as N-glycanase 1 (NGLY1). This enzyme normally helps the body remove proteins that are not functioning properly. The typical features of NGLY1 deficiency include abnormal tear production, a movement disorder (choreoathetosis), and liver disease. Additional features may include developmental delay, hypotonia (weak muscle tone), peripheral neuropathy , EEG abnormalities, and a small head size (microcephaly). The condition is caused by mutations in the N-glycanase 1 gene ( NGLY1 gene) and is inherited in an autosomal recessive manner.
Source: GARD Last updated on 05-01-20
NGLY1.org has developed a handbook for patients, families and healthcare providers entitled "About NGLY1 Deficiency." NGLY1.org is a foundation dedicated to NGLY1 deficiency research, awareness and support.
Last updated on 04-27-20
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