Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria

Molecular Genetics and Metabolism

Volumn 87, Issue 3 SPEC. ISS., 2006, Pages 243-248

  Loupatty, Ference J ^a   Van Der Steen, Annemarie ^a   Ijlst, Lodewijk ^a   Ruiter, Jos P N ^a   Ofman, Rob ^a   Baumgartner, Matthias R ^b   Ballhausen, Diana ^b   Yamaguchi, Seiji ^c   Duran, Marinus ^a   Wanders, Ronald J A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c SHIMANE UNIVERSITY   (Japan)

Author keywords

3 Hydroxyisobutyrate dehydrogenase; 3 Hydroxyisobutyryic aciduria; Branched chain amino acids; Dysmorphic features; HIBADH; Valine degradation

Indexed keywords

3 HYDROXY 2 METHYLPROPIONIC ACID; 3 HYDROXYISOBUTYRATE DEHYDROGENASE; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

ACIDURIA; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME SPECIFICITY; FIBROBLAST; HUMAN; LABORATORY TEST; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ESCHERICHIA COLI;

EID: 33644642581     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.09.019     Document Type: Article

References (15)

1. F.J. Ko, W.L. Nyhan, J. Wolff, B. Barshop, and L. Sweetman 3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism Pediatr. Res. 30 1991 322 326
2. D. Chitayat, K. Meagher-Villemure, O.A. Mamer, A. O'Gorman, D.I. Hoar, K. Silver, and C.R. Scriver Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria J. Pediatr. 121 1992 86 89
3. O. Boulat, N. Benador, E. Girardin, and C. Bachmann 3-Hydroxyisobutyric aciduria with a mild clinical course J. Inherit. Metab Dis. 18 1995 204 206
4. M. Sasaki, M. Kimura, K. Sugai, T. Hashimoto, and S. Yamaguchi 3-Hydroxyisobutyric aciduria in two brothers Pediatr. Neurol. 18 1998 253 255
5. M. Sasaki, H. Iwata, K. Sugai, M. Fukumizu, M. Kimura, and S. Yamaguchi A severely brain-damaged case of 3-hydroxyisobutyric aciduria Brain Dev. 23 2001 243 245
6. J.P. Shield, R. Gough, J. Allen, and R. Newbury-Ecob 3-Hydroxyisobutyric aciduria: phenotypic heterogeneity within a single family Clin. Dysmorphol. 10 2001 189 191
7. Mienie L.J., Erasmus E. Biochemical studies on a patient with a possible 3-hydroxyisobutyrate dehydrogenase deficiency. Fifth International congress on inborn errors of metabolism. 1990. Ref Type: Abstract.
8. W.G. Robinson, and M.J. Coon The purification and properties of beta-hydroxyisobutyric dehydrogenase J. Biol. Chem. 225 1957 511 521
9. J.W. Hawes, E.T. Harper, D.W. Crabb, and R.A. Harris Structural and mechanistic similarities of 6-phosphogluconate and 3-hydroxyisobutyrate dehydrogenases reveal a new enzyme family, the 3-hydroxyacid dehydrogenases FEBS Lett. 389 1996 263 267
10. J.W. Hawes, D.W. Crabb, R.J. Chan, P.M. Rougraff, R. Paxton, and R.A. Harris Mammalian 3-hydroxyisobutyrate dehydrogenase Methods Enzymol. 324 2000 218 228
11. P.M. Rougraff, R. Paxton, M.J. Kuntz, D.W. Crabb, and R.A. Harris Purification and characterization of 3-hydroxyisobutyrate dehydrogenase from rabbit liver J. Biol. Chem. 263 1988 327 331
12. P.M. Rougraff, B. Zhang, M.J. Kuntz, R.A. Harris, and D.W. Crabb Cloning and sequence analysis of a cDNA for 3-hydroxyisobutyrate dehydrogenase. Evidence for its evolutionary relationship to other pyridine nucleotide-dependent dehydrogenases J. Biol. Chem. 264 1989 5899 5903
13. W. Roschinger, A.C. Muntau, M. Duran, L. Dorland, L. IJlst, R.J. Wanders, and A.A. Roscher Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle Clin. Chim. Acta 298 2000 55 68
14. L. IJlst, R.J. Wanders, S. Ushikubo, T. Kamijo, and T. Hashimoto Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein Biochim. Biophys. Acta 1215 1994 347 350
15. M.J. Bennett, W.G. Sherwood, K.M. Gibson, and A.B. Burlina Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect J. Inherit. Metab. Dis. 16 1993 560 562