Diagnosis

"The disease is easily misdiagnosed and, universally, probably underdiagnosed"  Dr. M Arvio

AGU kids are born healthy and happy babies (as many other kids with rare diseases). They develop normally and start to learn the skills. As the disease progresses and waste builds up in a body, the first sign of the disease appear in 2-5 year old toddles. Early disease signs are:
  • Delayed speech and/or articulation problems, 
  • Clumsiness or delayed/slow motor functions,
  • Recurring infections.
Usual diagnosis for a school age child is ADHD, autistic spectrum disorder or language/auditory processing disorder

The reason for the above presentation is the lack a cellular enzyme that breaks down long sugars attached to proteins (glucoproteins). These proteins are most abundant in the body tissues and in major organs, such as liver, spleen, thyroid and brain. When the enzyme is not working or not working properly, the sugars are not broken down in cells, leading to their excess accumulation in the body tissues and its increased excretion in urine. The process is gradual, damaging the tissues and organs, progressively destructing cells and leading to eventual death. As the disorder progresses, patients typically become severely mentally and physically handicapped before dying in the third or fourth decade of their lives. 
 
Aspartylglucosaminuria, often referred to as AGU, is a rare genetic, autosomal recessive disease belonging to a group of lysosomal storage disorders. Lysosomes are cellular compartments that contain enzymes responsible for the final (cellular) breakdown of fats, proteins and sugars. This process is necessary for appropriate mental and physical development.

Most of the reported AGU cases are found in Finland. Currently (2012), there are about 260 reported cases of AGU in Finland, where total population is about five million. One in 18,500 babies born with AGU in Finland and 1 in 81 people in Finland are the carriers of AGU.

The incidence of AGU outside Finland is unknown. The reports of the documented cases came from different countries around the world and currently account to about 50 described cases (on the right).
Reports on non-Finnish patients
Finish patients Reports
Natural History reports by Dr. Maria Arvio: Part 1 (Intellectual functions) and Part 2 (Adaptive skills). CT scans for epileptic seizures.

Cases of Finish patients by Dr. Arvio
More reports are here.