• We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
Logo of archdischArchives of Disease in ChildhoodVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
Arch Dis Child. Jan 2000; 82(1): 67–70.
PMCID: PMC1718171

Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management


AIMS—To study retrospectively the effects of treatment and the clinical outcome in 12 patients with glutaric aciduria type 1; and to compare the outcome in 6 patients diagnosed as a result of family screening with 6 patients who were diagnosed late after symptomatic presentation.
SETTING—The National Centre for Inherited Metabolic Disorders, The Children's Hospital, Dublin, Ireland.
RESULT—Four of the 6 children detected on screening are developmentally normal, 1 died, and the remaining 1 has mild mental handicap. All 6 of the late diagnosed symptomatic group suffered dyskinetic cerebral palsy and 5 have died.
CONCLUSION—Experience of 50 patient treatment years has shown that early intensive management can alter the natural history of this rare disorder.

Full Text

The Full Text of this article is available as a PDF (119K).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Barić I, Zschocke J, Christensen E, Duran M, Goodman SI, Leonard JV, Müller E, Morton DH, Superti-Furga A, Hoffmann GF. Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis. 1998 Jun;21(4):326–340. [PubMed]
  • Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC. Glutaric aciduria; a "new" disorder of amino acid metabolism. Biochem Med. 1975 Jan;12(1):12–21. [PubMed]
  • Goodman SI, Kohlhoff JG. Glutaric aciduria: inherited deficiency of glutaryl-CoA dehydrogenase activity. Biochem Med. 1975 Jun;13(2):138–140. [PubMed]
  • Hoffmann GF, Trefz FK, Barth PG, Böhles HJ, Biggemann B, Bremer HJ, Christensen E, Frosch M, Hanefeld F, Hunneman DH, et al. Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy. Pediatrics. 1991 Dec;88(6):1194–1203. [PubMed]
  • Ribes A, Riudor E, Briones P, Christensen E, Campistol J, Millington DS. Significance of bound glutarate in the diagnosis of glutaric aciduria type I. J Inherit Metab Dis. 1992;15(3):367–370. [PubMed]
  • Morton DH, Bennett MJ, Seargeant LE, Nichter CA, Kelley RI. Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am J Med Genet. 1991 Oct 1;41(1):89–95. [PubMed]
  • Biery BJ, Stein DE, Morton DH, Goodman SI. Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet. 1996 Nov;59(5):1006–1011. [PMC free article] [PubMed]
  • Anikster Y, Shaag A, Joseph A, Mandel H, Ben-Zeev B, Christensen E, Elpeleg ON. Glutaric aciduria type I in the Arab and Jewish communities in Israel. Am J Hum Genet. 1996 Nov;59(5):1012–1018. [PMC free article] [PubMed]
  • Osaka H, Kimura S, Nezu A, Yamazaki S, Saitoh K, Yamaguchi S. Chronic subdural hematoma, as an initial manifestation of glutaric aciduria type-1. Brain Dev. 1993 Mar-Apr;15(2):125–127. [PubMed]
  • Drigo P, Burlina AB, Battistella PA. Subdural hematoma and glutaric aciduria type 1. Brain Dev. 1993 Nov-Dec;15(6):460–461. [PubMed]
  • Christensen E, Brandt NJ. Studies on glutaryl-CoA dehydrogenase in leucocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria. Clin Chim Acta. 1978 Sep 1;88(2):267–276. [PubMed]
  • Christensen E. Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I. Clin Chim Acta. 1983 Mar 28;129(1):91–97. [PubMed]
  • Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JB, Lehnert W, Leonard JV, Monavari AA, Müller E, Muntau AC, et al. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics. 1996 Jun;27(3):115–123. [PubMed]
  • Lipkin PH, Roe CR, Goodman SI, Batshaw ML. A case of glutaric acidemia type I: effect of riboflavin and carnitine. J Pediatr. 1988 Jan;112(1):62–65. [PubMed]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Group


Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...


  • Compound
    PubChem Compound links
  • MedGen
    Related information in MedGen
  • PubMed
    PubMed citations for these articles
  • Substance
    PubChem Substance links

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...