Paula and Bobby
Parents of Lillie
What is Aspartylglucosaminuria (AGU)?
Aspartylglucosaminuria is a progressive genetic disorder.
Children born with the syndrome are healthy at birth, and symptoms usually develop from the age of 2 years or older.
Symptoms tend to worsen with the onset of puberty.
What gene changes cause Aspartylglucosaminuria (AGU)?
This rare disease is the result of a defect in the AGA gene which provides the instructions to produce the aspartylglucosaminidase enzyme.
As a lysosomal storage disease, neurological, skeletal and connective tissue are all affected.
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 Aspartylglucosaminuria (AGU)?
Symptoms of the syndrome usually present post infancy, and from the age of 2-3 years. Children who appeared to be developing typically may start to experience delays in speech leading to an eventual loss of speech already learnt. A decline in cognitive ability is a major symptom and this declice worsens with the age of the individual.
Physical features of the syndrome include widely-spaced eyes, small ears, full lips, a short and broad nose, square face, large head and rounded cheeks.
Other possible health conditions related to the syndrome include seizures, hypermobility, osteoporosis and respiratory infections.
How does someone get tested for Aspartylglucosaminuria (AGU)?
The initial testing for Aspartylglucosaminuria (AGU) syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
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