Background
Review
Disease name/synonyms
-
Aspartylglucosaminuria (AGU)
-
Aspartylglycosaminuria (AGU)
-
Glycosylasparaginase deficiency
-
Aspartylglucosaminidase deficiency
-
AGA deficiency
-
Glycoasparaginase deficiency
Definition
Population genetics
Clinical description
Age in years | Growth | Cognition | Personality | Speech | Self-help | Motor skills |
---|---|---|---|---|---|---|
<2 | Early growth spurt +1- +2sd | Normal | “An easy baby” | Normal | Normal | Stiffness in hips |
2–5 | +1SD | Subnormal | Well-behaved and fussy | Delayed | Delayed | Walks clumsily |
6–9 | 0- + 1sd | Mild ID | Talkative, kind, stubborn | Unclear | Delayed | Can bike and ski, not skate |
10–15 | Slight and short pubertal growth spurt, early menarche, macro-orchidism | Moderate ID | Fond of children, joyful | Clear | Independent in toileting, dresses and undresses | No change |
16–19 | Growth ceases, -1SD | Moderate/severe ID | Tends to withdraw | “Soft” | Able to do little shopping | No change |
20–24 | Girls gain weight | Severe ID | Attached to parents, shows no interest to opposite sex | “Soft” | Able to move outdoors in familiar surroundings | No more biking nor skiing |
25–34 | No change | Severe ID | Calm, passive | Vocabulary decreases | Active and passive periods | May walk without a goal |
35–44 | No change | Severe ID | Confused | Few words | Constant need of help | Legs seem not to respond |
45+ | Loss of weight | Profound ID | Sits still for hours, angry when disturbed | No speech | Constant need of help | Poor balance/wheel chair |
Age in years | Mouth | Head and Face | Skin | Connective tissue | State of health | Test findings, brain MRI |
---|---|---|---|---|---|---|
<2 | Normal | Macrocephalia, broad mandiple, short and broad nose | Facial erythema | Hernia, planovalgus, clubfoot | Respiratory infections, diarrhoea | Vacuolated cells in all tissues |
2–5 | Large tongue, broad dental arches, food retention | Generous cheeks, periorbital fullnes | Piezogymic papules in heels, white spots | Tapered fingers, lordosis | Respiratory infections, diarrhoea | Delayed myelination, decreased T2 signal intensity of the thalami |
6–9 | Gingivitis, oral candida | No change | No change | Bulging abdomen, knock-knees | Benign subcutaneous tumors | Thick and misshapen ribs, vertebral dysplasia |
10–15 | Gingival overgrowts | No change | Facial seborrhoea | Broad and low ball of foot | Arthritis rheumatoides | Decreased T2 pulvinar signal intensity, mild cerebral atrophy |
16–19 | Edemic cheeks, cross bite | No change | Angiokeratoma | Thoracic deformity | Psychotic periods, epilepsy | Neutropenia, thrombopenia, mild cerebellar atrophy |
20–24 | No change | Coarsening facial feature | Facial angiofibromas | Childish appearance | Restless sleep, confusion periods | Evident cerebral and cerebellar atrophy |
25–34 | No change | Thick eyebrows | Facial rosacea | Poor carriage | Epilepsy | – |
35–44 | Loss of teeth and loss of gingical overgrowts | Thick and broad/full lips | Loose skin | Muscle atrophy and hypotony | Bursitis, osteoporosis, orofacial | Attenuation in EEG |
45+ | Drooling | Microcephalia | Angiofibromas and rosacea increse | Contractures in fingers and elbows | Abscesses, fistula of skin, diarrhoea, anaemia, hearth insufficiency, p | Progression of cerebral and cerebellar atrophy |