Title: 3‐Methylglutaconyl‐CoA hydratase deficiency: A new patient with speech retardation as the leading sign
Abstract: Journal of Inherited Metabolic DiseaseVolume 23, Issue 4 p. 341-344 Article 3-Methylglutaconyl-CoA hydratase deficiency: A new patient with speech retardation as the leading sign R. Ensenauer, R. Ensenauer University Children's Hospital Freiburg, GermanySearch for more papers by this authorC. B. Müller, C. B. Müller University Children's Hospital Freiburg, GermanySearch for more papers by this authorK. O. Schwab, K. O. Schwab University Children's Hospital Freiburg, GermanySearch for more papers by this authorK. M. Gibson, K. M. Gibson Oregon Health Sciences University Portland, Oregon, USASearch for more papers by this authorM. Brandis, M. Brandis University Children's Hospital Freiburg, GermanySearch for more papers by this authorW. Lehnert, W. Lehnert University Children's Hospital Freiburg, GermanySearch for more papers by this author R. Ensenauer, R. Ensenauer University Children's Hospital Freiburg, GermanySearch for more papers by this authorC. B. Müller, C. B. Müller University Children's Hospital Freiburg, GermanySearch for more papers by this authorK. O. Schwab, K. O. Schwab University Children's Hospital Freiburg, GermanySearch for more papers by this authorK. M. Gibson, K. M. Gibson Oregon Health Sciences University Portland, Oregon, USASearch for more papers by this authorM. Brandis, M. Brandis University Children's Hospital Freiburg, GermanySearch for more papers by this authorW. Lehnert, W. Lehnert University Children's Hospital Freiburg, GermanySearch for more papers by this author First published: 01 June 2000 https://doi.org/10.1023/A:1005670911799Citations: 18AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES 1Coste H, Gadoth N, Apter N, Prialnic M, Savir H (1989) A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology, 39: 595–597. 2Duran M, Beemer FA, Tibosch AS, Bruinvis L, Ketting D, Wadman SK (1982) Inherited 3–methylglutaconic aciduria in two brothers-another defect of leucine metabolism. J Pediatr, 101: 551–554. 3Gibson KM, Sherwood WG, Hoffmann GF et al (1991) Phenotypic heterogeneity in the syndromes of 3–methylglutaconic aciduria. J Pediatr, 118: 885–890. 4Gibson KM, Lee CF, Wappner RS (1992) 3–Methylglutaconyl-coenzyme-A hydratase deficiency: a new case. J Inherit Metab Dis, 15: 363–366. 5Gibson KM, Elpeleg ON, Jakobs C, Coste H, Kelley RI (1993) Multiple syndromes of 3–methylglutaconic aciduria. Pediatr Neurol, 9: 120–123. 6Gibson KM, Wappner RS, Jooste S et al (1998) Variable clinical presentation in three patients with 3–methylglutaconyl-coenzyme A hydratase deficiency. J Inherit Metab Dis, 21: 631–638. 7Hou JW, Wang TR (1995) 3–Methylglutaconic aciduria presenting as Reye syndrome in a Chinese boy. J Inherit Metab Dis, 18: 645–646. 8Kelley RI, Clark BJ, Morton DH, Sherwood WG (1989) X-linked cardiomyopathy, neutropenia, and increased urinary levels of 3–methylglutaconic and 2–ethylhydracrylic acids. Am J Hum Genet, 45: A7. 9Lehnert W (1994) Long-term results of selective screening for inborn errors of metabolism. Eur J Pediatr, 153: S9–S13. 10Narisawa K, Gibson KM, Sweetman L, Nyhan WL (1989) 3–Methylglutaconyl-CoA hydratase, 3–methylcrotonyl-CoA carboxylase and 3–hydroxy-3–methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection. Clin Chim Acta, 184: 57–64. 11Sewell AC, Herwig J, Böhles HJ, Knoll D, Gibson KM (1999) 3–Methylglutaconyl-CoAHydratase-Mangel: Ein seltener Leucin-Stoffwechseldefekt. Monatsschr Kinderheilkd, Supplement2–99: S196. 12Shoji Y, Takahashi T, Sawaishi Y et al (1999) 3–Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease. J Inherit Metab Dis, 22: 1–8. Citing Literature Volume23, Issue4June 2000Pages 341-344 ReferencesRelatedInformation