Birth Through
Age 5

Children experience developmental delays. Common signs and symptoms include:

  • Delayed speech
  • Sleep disturbance
  • Chronic ear infections, often requiring multiple ear tube placements
  • Frequent upper respiratory infections often resulting in tonsillectomy
  • Delay in sitting up
  • Clumsy walking
Signs and Symptoms

Adolescent Years

As the disease continues to progress through the adolescent years, other signs and symptoms may become apparent:

  • Intellectual disability will progressively worsen
  • Sleep disturbance
  • Anxiety, restlessness, and inability to understand the concept of time
  • Emotional, behavioral, and psychiatric issues can arise
  • Dental complications such as tooth decay, large tongue, and enlarged tonsils
  • Progressive thickening of facial features: widely-spaced eyes, small ears, full lips, large tongue, broad nose
  • Gastrointestinal symptoms including diarrhea or constipation
  • Gait (walking) disturbance
Adolescent Years

Childhood Years

The most common sign of AGU is the lack or delay of speech. In addition, other signs and symptoms that become apparent in AGU children throughout the elementary school-age years include:

  • Speech delay: support needed for missing words or letters
  • Sleep disturbance
  • Inability to learn shapes or trace figures
  • Inability to follow simple directions and trouble managing daily tasks
  • Thickening of facial features: widely-spaced eyes, small ears, full lips, large tongue, broad nose
  • Upper respiratory infections, specifically ear infections
  • Hernias around the belly button or in the groin area
  • Gastrointestinal symptoms including diarrhea or constipation
  • Orthopedic challenges, which may require surgery, including rolling instep, toe walking, knock knees, or spastic running
Childhood Years

Our son is extremely social and makes friends easily; however he becomes easily distracted, especially by the TV, or he can become very restless if there are not people there to keep his motivation levels up. Sometimes, he struggles with conflict resolution and gets more frustrated than others in certain situations.

- Mika, father of son living with AGU in Sweden

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Adulthood

People in their 20s and 30s may lack self-care skills and independence. Common signs and symptoms during this time include:

  • Seizures
  • Acceleration of cognitive decline
  • Sleep disturbance
  • Continued regression of previously mastered skills to the point of loss of ability
  • Gait (walking) disturbance
  • AGU-specific facial features become more apparent for example: widely-spaced eyes, small ears, full lips, large tongue, broad nose
Adulthood

Birth Through
Age 5

Children experience developmental delays. Common signs and symptoms include:

  • Delayed speech
  • Sleep disturbance
  • Chronic ear infections, often requiring multiple ear tube placements
  • Frequent upper respiratory infections often resulting in tonsillectomy
  • Delay in sitting up
  • Clumsy walking
Birth Through<br />Age 5

Our daughter struggled with orthopedic challenges. She was continuously falling and was unable to brace herself when she fell. We added supportive soles to her shoes that went ankle high. Her kindergarten teachers also indicated that she was learning slower than her classmates.

- Eeva, mother living in Finland reflecting on her daughter’s younger years living with AGU

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Childhood Years

The most common sign of AGU is the lack or delay of speech. In addition, other signs and symptoms that become apparent in AGU children throughout the elementary school-age years include:

  • Speech delay: support needed for missing words or letters
  • Sleep disturbance
  • Inability to learn shapes or trace figures
  • Inability to follow simple directions and trouble managing daily tasks
  • Thickening of facial features: widely-spaced eyes, small ears, full lips, large tongue, broad nose
  • Upper respiratory infections, specifically ear infections
  • Hernias around the belly button or in the groin area
  • Gastrointestinal symptoms including diarrhea or constipation
  • Orthopedic challenges, which may require surgery, including rolling instep, toe walking, knock knees, or spastic running
Childhood Years

Our son is extremely social and makes friends easily; however he becomes easily distracted, especially by the TV, or he can become very restless if there are not people there to keep his motivation levels up. Sometimes, he struggles with conflict resolution and gets more frustrated than others in certain situations.

- Mika, father of son living with AGU in Sweden

Read Story

Adolescent Years

As the disease continues to progress through the adolescent years, other signs and symptoms may become apparent:

  • Intellectual disability will progressively worsen
  • Sleep disturbance
  • Anxiety, restlessness, and inability to understand the concept of time
  • Emotional, behavioral, and psychiatric issues can arise
  • Dental complications such as tooth decay, large tongue, and enlarged tonsils
  • Progressive thickening of facial features: widely-spaced eyes, small ears, full lips, large tongue, broad nose
  • Gastrointestinal symptoms including diarrhea or constipation
  • Gait (walking) disturbance
Adolescent Years

Adulthood

People in their 20s and 30s may lack self-care skills and independence. Common signs and symptoms during this time include:

  • Seizures
  • Acceleration of cognitive decline
  • Sleep disturbance
  • Continued regression of previously mastered skills to the point of loss of ability
  • Gait (walking) disturbance
  • AGU-specific facial features become more apparent for example: widely-spaced eyes, small ears, full lips, large tongue, broad nose
Adulthood

Common Signs & Symptoms

While the signs and symptoms of AGU can vary and progress at each stage of a child’s life, there are some common signs and symptoms that are consistent across many cases of AGU.

  • Delay in speech
  • Speech disturbance
  • Characteristic facial appearance (widely spaced eyes, small ears, full lips, broad nose, coarsening of hair)
  • Slow learning of language and simple concepts
  • Problems with motor skills
  • Frequent ear infections, often requiring multiple ear tubes
  • Frequent upper respiratory infections
  • Diarrhea or constipation
  • Hernias (umbilical/belly button and inguinal/inner groin)
  • Clumsy walking (gait issues)
AGU Glossary of Terms
  1. Lokko, H. N., & Stern, T. A. (2015). Regression: Diagnosis, evaluation, and management. The Primary Care Companion for CNS Disorders, 17(3). Retrieved June 5, 2019, from link.
  2. Arvio, M., & Mononen, I. (2016). Aspartylglycosaminuria: a review. Orphanet Journal of Rare Diseases, 11(162). Retrieved June 5, 2019, from link.

Additional Source:

  1. Field research conducted by Neurogene and Ten Bridge Communications, February 2019.