Aspartylglucosaminuria (AGU) is a lysosomal storage disorder with a relatively uniform phenotype that includes progressive mental retardation from early childhood, coarse facial features and skeletal and connective tissue abnormalities. The intrauterine and early development of AGU patients is usually normal. During the first years of life, an increased tendency for recurrent upper respiratory infections is frequently observed with signs of disturbed development, most frequently a delay in speech development and motor clumsiness that usually becomes apparent between 2 and 5 years of age. The average life span of patients is 40 years. AGU is extremely rare except in the Finnish population where the carrier frequency is as high as 1 in 40 in some areas of the country.

Tests Available

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array CGH


4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs


  • 272.7 Lipidoses (Fabry Disease)
  • 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
* For price inquiries please email


  1. Laitinen et al., (1997) Clin Genet 51 :174-178.
  2. Saarela et al., (2004) Hum Mutat 24 :350-1.
  3. Fisher, K. and Aronson, N. (1991) J Biol Chem 266 :12105-13.
  4. Saarela et al., (2001) Hum Mol Genet 10 :983-995.
  5. Ikonen et al., (1991) Proc Natl Acad Sci USA 88 :11222-11226.
  6. Jalanko et al., (1995) Hum Mol Genet 4 :435-441.
  7. Ikonen et al., (1992) J Biol Chem 267 :8715-8718.
  8. Isoniemi et al., (1995) Hum Mutat 5 :318-326.
  9. Peltola et al., (1996) Hum Mol Genet 5 :737-743.