Literature DB >> 10070612

3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease.

Y Shoji1, T Takahashi, Y Sawaishi, A Ishida, M Matsumori, Y Shoji1, M Enoki, H Watanabe, G Takada.   

Abstract

3-Methylglutaconic (3-MGC) aciduria with 3-methylglutaconyl-CoA hydratase deficiency (3-MGC aciduria type I) is a rare inherited metabolic disease of L-leucine catabolism. We describe a 9-month-old Japanese boy with this disorder who showed progressive neurological impairments presented as quadriplegia, athetoid movements and severe psychomotor retardation from 4 months of age. This finding indicates the existence of clinical heterogeneity in 3-MGC aciduria type I, suggesting it may present as a neurometabolic disease.

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Year:  1999        PMID： 10070612     DOI： 10.1023/a:1005421111554

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  9 in total

1.  3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4').

Authors:  D Chitayat; J Chemke; K M Gibson; O A Mamer; J B Kronick; J J McGill; B Rosenblatt; L Sweetman; C R Scriver
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case.

Authors:  K M Gibson; C F Lee; R S Wappner
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

3.  3-Methylglutaconic aciduria presenting as Reye syndrome in a Chinese boy.

Authors:  J W Hou; T R Wang
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 4.  Multiple syndromes of 3-methylglutaconic aciduria.

Authors:  K M Gibson; O N Elpeleg; C Jakobs; H Costeff; R I Kelley
Journal:  Pediatr Neurol       Date:  1993 Mar-Apr       Impact factor: 3.372

5.  Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism.

Authors:  M Duran; F A Beemer; A S Tibosch; L Bruinvis; D Ketting; S K Wadman
Journal:  J Pediatr       Date:  1982-10       Impact factor: 4.406

6.  Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria.

Authors:  K M Gibson; W G Sherwood; G F Hoffman; D A Stumpf; I Dianzani; R B Schutgens; P G Barth; U Weismann; C Bachmann; P Schrynemackers-Pitance
Journal:  J Pediatr       Date:  1991-06       Impact factor: 4.406

7.  3-Methylglutaconic aciduria: ten new cases with a possible new phenotype.

Authors:  A al Aqeel; M Rashed; P T Ozand; J Brismar; G G Gascon; A al Odaib; O Dabbagh
Journal:  Brain Dev       Date:  1994-11       Impact factor: 1.961

8.  3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases.

Authors:  K M Gibson; C F Lee; V Kamali; K Johnston; A L Beaudet; W J Craigen; B R Powell; R Schwartz; M Y Tsai; M Tuchman
Journal:  Clin Chem       Date:  1990-02       Impact factor: 8.327

9.  3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection.

Authors:  K Narisawa; K M Gibson; L Sweetman; W L Nyhan
Journal:  Clin Chim Acta       Date:  1989-09-15       Impact factor: 3.786
  9 in total
  4 in total

1.  3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign.

Authors:  R Ensenauer; C B Müller; K O Schwab; K M Gibson; M Brandis; W Lehnert
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  [Newborn screening as a predictive genetic test: principles and challenges].

Authors:  Johannes Zschocke
Journal:  Wien Med Wochenschr       Date:  2012-03-28

3.  3-Methylglutaconic aciduria type I is caused by mutations in AUH.

Authors:  Lodewijk IJlst; Ference J Loupatty; Jos P N Ruiter; Marinus Duran; Willy Lehnert; Ronald J A Wanders
Journal:  Am J Hum Genet       Date:  2002-11-14       Impact factor: 11.025

Review 4.  3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.

Authors:  Francesca Nardecchia; Anna Caciotti; Teresa Giovanniello; Sabrina De Leo; Lorenzo Ferri; Serena Galosi; Silvia Santagata; Barbara Torres; Laura Bernardini; Claudia Carducci; Amelia Morrone; Vincenzo Leuzzi
Journal:  Int J Mol Sci       Date:  2022-04-16       Impact factor: 6.208
  4 in total

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