congenital disorder of deglycosylation 1

A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene

A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 3p24.

Signs and symptoms

• Corneal opacity
• Short foot
• Delayed CNS myelination
• High myoinositol in brain by MRS
• Elevated brain choline level by MRS
• Hypotonia
• Reduced brain N-acetyl aspartate level by MRS
• Restlessness
• Chondroitin sulfate excretion in urine
• Intellectual disability

Also known as: NGLY1-CDDG; NGLY1-deficiency; congenital disorder of glycosylation type Iv; deficiency of N-glycanase 1