Congenital Disorder of Deglycosylation 1(CDDG1)

What is Congenital Disorder of Deglycosylation 1(CDDG1)?

This genetic condition is also be known as deficiency of N-glycanase 1.

This deficiency of NGLY1 is believed to trigger many of the symptoms associated with this syndrome.

These symptoms include development delay, seizures and uncontrolled limb movements.

Also known formerly as, Congenital Disorder of Glycosylation Type Iv

What gene change causes Congenital Disorder of Deglycosylation 1(CDDG1)?

Mutations in the NGLY1 gene are responsible for the syndrome. It is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Congenital Disorder of Deglycosylation 1 (CDDG1)?

Symptoms may vary widely between individuals affected with the syndrome.

  • Symptoms usually start to present during infancy with global developmental delay, and hypotonia (low muscle tone).
  • Individuals may also experience uncontrollable limb movements and seizures that don’t always respond to treatment.
  • Peripheral neuropathy and liver inflammation, are also commonly reported.
  • Other features include a very small head (microcephaly), eye abnormalities, and abnormal liver function.

Possible features:

Microcephaly, Alacrima (abscence of tears), Corneal Ulceration, Strabismus, Ocular Apraxia, Abnormal Liver Function, Liver Inflammation, Small Hands, Small Feet, Global Developmental Delay, Hypotonia, Involuntary Movements, Myoclonic Jerks, Eplepsy Multifocal and Intractable, Hyporreflexia, Peripheral Neuropathy.

How is Congenital Disorder of Deglycosylation 1(CDDG1) diagnosed?

To find out if someone has a diagnosis of Congenital Disorder od Deglycosylation 1 (CDDG1), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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