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