N-Glycanase (NGLY 1) Deficiency

What is N-glycanase (NGLY 1) deficiency?

N-glycase (NGLY 1) deficiency is an extremely rare and complex genetic neurologic disorder in which the individual lacks a vital enzyme known as N-glycanase (NGLY 1). This enzyme is necessary for the removal of certain proteins that are not functioning properly. The lack of NGLY 1 leads to the accumulation of these proteins in body cells. NGLY 1 deficiency is said to have first been defined four years ago, and approximately 80 people have been diagnosed worldwide.

What are the symptoms of NGLY 1 deficiency?

The symptoms of NGLY 1 deficiency are severe and start at birth. Most individuals do not live to be ten years of age. Symptoms include:

• Lack of tears
• Liver dysfunction
• Seizures and abnormal EEG findings
• Poor reflexes
• Developmental delays, both physical and cognitive
• Weak muscle tone
• Movement disorder Constipation

What causes NGLY 1 deficiency?

NGLY 1 deficiency is an inherited recessive trait caused by mutations in the N-glycanase 1 gene. Parents that are carriers of this trait have a 25% chance of having a child with NGLY 1 deficiency.

What treatment options are available for NGLY 1 deficiency?

There is no cure for NGLY 1 deficiency. Currently, there are efforts to establish a clinical trial of a potentially helpful medication, but right now, treatment is directed at symptom control. Treatments include:

• Medications for seizures
• Eye drops and/or ointments for dry eyes
• Medications and/or supplements for constipation

Where can I find more information about NGLY 1 deficiency?

• “Overcoming Movement Disorder”
• National Organization for Rare Disorders (NORD)
• CNN
• CheckOrphan
• University of Utah
• Retrophin