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Table 2 Progressive nature of AGU: mouth, head and face, skin, connective tissue, health and test findings according age

From: Aspartylglycosaminuria: a review

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