Aspartylglucosaminuria

Aspartylglucosaminuria (AGU) is a lysosomal storage disorder. The intrauterine and early development of individuals with AGU is usually normal but progressive intellectual disability develops from early childhood, speech and motor skills tend to be affected early, and affected individuals have dysmorphic features and abnormal skin. The progression of intellectual disability is slow at first but increases with age. Adults have severe /profound intellectual disability, seizures are present in 30% of affected individuals and psychiatric disorders in 20%. Affected adults may have seizures, movement disorders, osteoporosis, hypermobility, and loose skin. Macrocephaly may be present in children, while adults have microcephaly. The average life span of patients is usually less than 50 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

AGA
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

658
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 272.7 Lipidoses (Fabry Disease)
  • 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
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References

  1. Laitinen et al. (1997) Clinical Genetics 51 (3):174-8 (PMID: 9137882)
  2. Saarela et al. (2004) Human Mutation 24 (4):350-1 (PMID: 15365992)
  3. Fisher et al. (1991) The Journal Of Biological Chemistry 266 (18):12105-13 (PMID: 1904874)
  4. Saarela et al. (2001) Human Molecular Genetics 10 (9):983-95 (PMID: 11309371)
  5. Ikonen et al. (1991) Proceedings Of The National Academy Of Sciences Of The United States Of America 88 (24):11222-6 (PMID: 1722323)
  6. Jalanko et al. (1995) Human Molecular Genetics 4 (3):435-41 (PMID: 7795599)
  7. Ikonen et al. (1992) J. Biol. Chem. 267 (13):8715-8 (PMID: 1577713)
  8. Isoniemi et al. (1995) Hum. Mutat. 5 (4):318-26 (PMID: 7627186)
  9. Peltola et al. (1996) Hum. Mol. Genet. 5 (6):737-43 (PMID: 8776587)
  10. Arvio et al. (2016) Orphanet J Rare Dis 11 (1):162 (PMID: 27906067)
  11. Stenson et al. (2014) Human Genetics 133 (1):1-9 (PMID: 24077912)