This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Add to Collections

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Yes
No

Email: (change)

Frequency:

Which day?

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

Case Reports

. 1992;15(3):363-6.

doi: 10.1007/BF02435977.

3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case

K M Gibson¹, C F Lee, R S Wappner

Affiliations

PMID: 1383605
DOI: 10.1007/BF02435977

Case Reports

3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case

K M Gibson et al. J Inherit Metab Dis. 1992.

. 1992;15(3):363-6.

doi: 10.1007/BF02435977.

Authors

K M Gibson¹, C F Lee, R S Wappner

Affiliation

¹ Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Dallas, Texas.

PMID: 1383605
DOI: 10.1007/BF02435977

No abstract available

PubMed Disclaimer

Similar articles

3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign.
Ensenauer R, Müller CB, Schwab KO, Gibson KM, Brandis M, Lehnert W. Ensenauer R, et al. J Inherit Metab Dis. 2000 Jun;23(4):341-4. doi: 10.1023/a:1005670911799. J Inherit Metab Dis. 2000. PMID: 10896289 No abstract available.
3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.
Lehnert W, Scharf J, Wendel U. Lehnert W, et al. Eur J Pediatr. 1985 Mar;143(4):301-3. doi: 10.1007/BF00442306. Eur J Pediatr. 1985. PMID: 2580710
Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism.
Duran M, Beemer FA, Tibosch AS, Bruinvis L, Ketting D, Wadman SK. Duran M, et al. J Pediatr. 1982 Oct;101(4):551-4. doi: 10.1016/s0022-3476(82)80698-7. J Pediatr. 1982. PMID: 6181239
[3-Methylglutaconyl-CoA hydratase deficiency].
Yoshida I. Yoshida I. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):288-91. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590049 Review. Japanese. No abstract available.
3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features.
Gunay-Aygun M. Gunay-Aygun M. Mol Genet Metab. 2005 Jan;84(1):1-3. doi: 10.1016/j.ymgme.2004.12.003. Mol Genet Metab. 2005. PMID: 15719488 Review. No abstract available.

See all similar articles

Cited by

3-Methylglutaconic aciduria type I is caused by mutations in AUH.
IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ. IJlst L, et al. Am J Hum Genet. 2002 Dec;71(6):1463-6. doi: 10.1086/344712. Epub 2002 Nov 14. Am J Hum Genet. 2002. PMID: 12434311 Free PMC article.
3-Methylglutaconic aciduria presenting as Reye syndrome in a Chinese boy.
Hou JW, Wang TR. Hou JW, et al. J Inherit Metab Dis. 1995;18(5):645-6. doi: 10.1007/BF02436015. J Inherit Metab Dis. 1995. PMID: 8598651 No abstract available.
3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign.
Ensenauer R, Müller CB, Schwab KO, Gibson KM, Brandis M, Lehnert W. Ensenauer R, et al. J Inherit Metab Dis. 2000 Jun;23(4):341-4. doi: 10.1023/a:1005670911799. J Inherit Metab Dis. 2000. PMID: 10896289 No abstract available.
Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency.
Gibson KM, Wappner RS, Jooste S, Erasmus E, Mienie LJ, Gerlo E, Desprechins B, De Meirleir L. Gibson KM, et al. J Inherit Metab Dis. 1998 Aug;21(6):631-8. doi: 10.1023/a:1005476315892. J Inherit Metab Dis. 1998. PMID: 9762598 No abstract available.
Screening for defects of branched-chain amino acid metabolism.
Gibson KM, Lee CF, Hoffmann GF. Gibson KM, et al. Eur J Pediatr. 1994;153(7 Suppl 1):S62-7. doi: 10.1007/BF02138780. Eur J Pediatr. 1994. PMID: 7957389 Review.

See all "Cited by" articles

References

1. Clin Chem. 1990 Feb;36(2):297-303 - PubMed
1. Eur J Pediatr. 1988 Oct;148(1):76-82 - PubMed
1. J Clin Invest. 1986 Apr;77(4):1148-52 - PubMed
1. Clin Chim Acta. 1989 Sep 15;184(1):57-64 - PubMed
1. J Inherit Metab Dis. 1989;12(3):339-40 - PubMed

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
- Wiley