NGLY1 deficiency is a rare disorder that can affect multiple systems of the body. Affected individuals may have delays in reaching developmental milestones, intellectual disability, movement disorders, seizures, liver disease and an inability to produce tears when they cry (alacrima), or they may produce tears very infrequently. The specific symptoms and severity of this disorder can vary dramatically among affected individuals. Additional symptoms can develop in some children. NGLY1 deficiency is caused by changes (disease-causing variants) in the NGLY1 gene. The variants are inherited in an autosomal recessive pattern. Approximately 100 individuals with NGLY1 deficiency have been identified. It is possible that only the most severely affected children have been diagnosed and that descriptions of this disorder reflect these severely affected individuals. This happens because more severely affected children are more likely to be referred to specialists, receive genetic testing and receive a diagnosis. Some researchers think that people with milder forms of NGLY1 deficiency most likely exist.
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