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

American Journal of Human Genetics

Volumn 71, Issue 6, 2002, Pages 1463-1466

  Ijlst, Lodewijk ^a   Loupatty, Ference J ^a   Ruiter, Jos P N ^a   Duran, Marinus ^a   Lehnert, Willy ^b   Wanders, Ronald J A ^a,c  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY OF FREIBURG   (Germany)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

3 METHYLGLUTACONIC ACID; 3 METHYLGLUTACONYL COENZYME A HYDRATASE; PROTEIN; PROTEIN AUH; RNA BINDING PROTEIN; UNCLASSIFIED DRUG;

3 METHYLGLUTACONIC ACIDURIA; ACIDURIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONSENSUS SEQUENCE; CRYSTAL STRUCTURE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; SPEECH DISORDER;

ESCHERICHIA COLI;

EID: 0036908780     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/344712     Document Type: Article

References (11)

1. Duran 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
2. Ensenauer R, Muller CB, Schwab KO, Gibson KM, Brandis M, Lehnert W (2000) 3-Methylglutaconyl-CoA hydratase deficiency: A new patient with speech retardation as the leading sign. J Inherit Metab Dis 23:341-344
3. Gibson KM, Lee CF, Wappner RS (1992) 3-Methylglutaconyl-coenzyme - A hydratase deficiency: A new case. J Inherit Metab Dis 15:363-366
4. Gibson KM, Wappner RS, Jooste S, Erasmus E, Mienie LJ, Gerlo E, Desprechins B, De Meirleir L (1998) Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency. J Inherit Metab Dis 21: 631-638
5. Hilz H, Knappe J, Ringelmann E, Lynen F (1958) Methylglutaconase, eine neue hydratase, die am stoffwechsel verzweigter carbonsäuren beteiligt ist. Biochem Z 329:476-489
6. Kurimoto K, Fukai S, Nureki O, Muto Y, Yokoyama S (2001) Crystal structure of human AUH protein, a single-stranded RNA binding homolog of enoyl-CoA hydratase. Structure 9:1253-1263
7. Nakagawa J, Waldner H, Meyer-Monard S, Hofsteenge J, Jeno P, Moroni C (1995) AUH, a gene encoding an AU-specific RNA binding protein with intrinsic enoyl-CoA hydratase activity. Proc Natl Acad Sci USA 92:2051-2055
8. Narisawa K, Gibson KM, Sweetman L, Nyhan WL (1986) Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria. J Clin Invest 77:1148-1152
9. Narisawa K, Gibson KM, Sweetman L, Nyhan WL (1989) 3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy3-methylglutaryl-CoA lyase deficiencies: A coupled enzyme assay useful for their detection. Clin Chim Acta 184:57-64
10. Shoji Y, Takahashi T, Sawaishi Y, Ishida A, Matsumori M, Shoji Y, Enoki M, Watanabe H, Takada G (1999) 3-Methylglutaconic aciduria type I: Clinical heterogeneity as a neurometabolic disease. J Inherit Metab Dis 22:1-8
11. Wanders RJA, Ijlst L, Poggi F, Bonnefont JP, Munnich A, Brivet M, Rabier D, Saudubray JM (1992) Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid oxidation. Biochem Biophys Res Commun 188: 1139-1145