Clinical Signs

Clinical Signs

AGU babies look healthy and infancy is normal. Once born, girls may have umbilical and boys inguinal hernias, as well as respiratory infections and periods of diarrhea. Early growth spurts usually occur during the first months of life. Initial symptoms are language/speech delay and clumsiness, which appear between two and five years of age. There may be recurring infections.  As the disorder progresses, language skills are affected the most. Children continue to develop until their early twenties, but the learning occurs at a slower rate.

The usual diagnosis for a school age child is ADHD, autistic spectrum disorder and/or language/auditory processing disorders.

Intellectual disability progressively worsens in adolescence. Most people with this disorder lose much of the speech they have learned and affected adults usually have only a few words in their vocabulary. Adults with AGU may develop seizures or problems with movement.

All patients excrete early large amounts of aspartylglucosamine in their urine. Biochemical screening tests are easily done by urine chromatography in certified labs only. Genetic testing can establish the diagnosis.

Typical development (Finnish AGU patient profile)
(development varies in patients with different AGA gene mutations):
Life Period (Years) Level of Mental Retardation Speech Self Help Motor Skills Personality Growth State of Health
0-2 Normal Normal Normal Stiffness in hips A kind and easy baby Growth spurt +1- +2sd Normal health
2-6 Subnormal Delayed Normal Walks clumsily Well behaved +1sd Respiratory, infections, diarrhea
6 – 10 Mild Unclear Able to dress/undress Can bike Fussy 0 – +1sd Benign subcutaneus tumors
10 – 12 Mild/ moderate Clear Able to do some shopping and move in familiar areas Can ski, not skate Kind/stubborn and talkative Slight and short pubertal growth spurt, early menarche, macroorchidism Arthritis rheumatoid
12 – 16 Moderate/severe Clear No change No change Fond of children, joyful, good mood Growth ceases Psychotic periods, epileptic seizures
16 – 20 Severe/moderate Soft No change No change Tend to withdraw, fond of parents, not interested in opposite sex Girls gain weight Restless sleep/sleep disorder, confusion periods
20 – 25 Severe Vocabulary decreases No change No more biking or skiing Calm Normal weight Restless sleep / sleep disorder, confusion periods
25 – 35 Profound Quiet, answers when asked Active and passive periods Can walk without a goal Inactive, confused No change Bursitis, osteoporosis
35 – 45 Profound Only a few words Needs help, can eat self Legs seem not to respond, poor balance Sit still for hours, angry when disturbed Lose weight Orofacial dystopia
45+ Profound No speech Needs diapers Wheelchair Quiet Malnutrition, underweight Abcesses, fistula of skin, diarrhea, anemia, psychiatric symptoms, heart insufficiency