Glutaric Aciduria Type I

Glutaric aciduria type I (GA1) is a rare autosomal recessive disorder affecting the catabolism of the amino acids lysine, hydroxylysine and tryptophan. There is wide variation in disease severity, even reported among affected siblings. Some patients are asymptomatic even without treatment, whereas others have severe neurologic phenotype characterized by progressive dystonia, spasticity and opisthotonos. Macrocephaly is a common feature, and may be present at birth or develop in the first few weeks or months. Fronto-temporal atrophy may be apparent on neuroimaging and may preceed neurologic symptoms. Affected children are generally well at birth and may present with irritability, feeding difficulties repeated fevers, insomnia, or hypotonia

Tests Available

Forms and Documents

Test Details

GCDH
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

399
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Superti-Furga, A. and Hoffman, G (1997) Eur J Ped 156:821-828.
  2. Christensen E. et al., (2004) J Inherit Metab Dis 27:861-868.
  3. Hoffmann, G.F. et al., (1999) J Inher Metab Dis 22 :381-391.
  4. Zschocke, J. et al., (2000) J Med Genet 37:177- 181.
  5. Busquets, C. et al., (2000) Hum Mut 15(2):207.
  6. Goodman, SI et al., (1998) Hum Mut 12:141-4.