To find a cure for Congenital Disorders of Glycosylation (CDG)


Fund research for developing a cure and treatment for CDG, advocate for CDG screening, raise awareness about CDG and provide assistance to CDG families.


What is PMM2-CDG?

PMM2 deficiency or PMM2-CDG is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disorder. A defective copy of the PMM2 gene is the most common cause of a disease called “congenital disorders of glycosylation” or “PMM2-CDG”. PMM2-CDG is the most common of a growing family of more than 100 extremely rare inherited metabolic disorders. Only about 1000 children and adults have been reported worldwide.

Other Names for PMM2 Deficiency

  • Carbohydrate-deficient Glycoprotein Syndrome (CDGS) Type Ia
  • Congenital Disorder of Glycosylation (CDG) Type Ia
  • Phosphomannomutase Deficiency
  • Jaeken Syndrome
  • PMM2-CDG
  • CDG1a

Signs and symptoms

Source: https://en.wikipedia.org/wiki/PMM2_deficiency

What is Amour?

Amour means ‘Resilient’ in Armenian and ‘Love’ in French. It’s not a coincidence that CDG kids are Amour. Our goal is for children with CDG to be ‘Amour’ so that they can live to their fullest potential, walk, talk, smile and laugh like all children. The ultimate vision of the Amour Fund is to find a cure for Congenital Disorders of Glycosylation (CDG) by supporting CDG research. Amour fund honors disadvantaged children, raises awareness about rare diseases, advocates for screening, and provides assistance to those in need.


  • Fund medical research for CDG
  • Raise awareness of CDG and CDG treatment
  • Assist in ongoing treatments
  • Add CDG to newborn screening programs
  • Provide educational assistance
  • Provide durable medical equipment to children in need
  • Assist with school placement and education for CDG children
  • Provide assistance to disadvantaged kids