Glutaric aciduria type III: A distinctive non-disease?

Journal of Inherited Metabolic Disease

Volumn 25, Issue 6, 2002, Pages 483-490

  Knerr, I ^a   Zschocke, J ^b   Trautmann, U ^a   Dorland, L ^c   De Koning, T J ^c   Muller P ^d   Christensen, E ^e   Trefz, F K ^f   Wundisch G F ^g   Rascher, W ^a   Hoffman, G F ^b  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d UNIVERSITY OF LEIPZIG   (Germany)

^e Rigshospitalet   (Denmark)

^f Children's Hospital   (Germany)

^g Children's Hospital   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CREATININE; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE; LYSINE; PIPECOLIC ACID; THIAMAZOLE;

ACUTE GASTROENTERITIS; ARTICLE; BIOCHEMISTRY; BODY DYSMORPHIC DISORDER; CASE REPORT; CHILD; CHROMOSOME 6Q; CHROMOSOME DELETION; CREATININE CLEARANCE; DISEASE CLASSIFICATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DISORDERS OF PEROXISOMAL FUNCTIONS; ENZYME DEFICIENCY; FEMALE; GLUTARIC ACIDURIA TYPE 3; HUMAN; HYPERTHYROIDISM; INTESTINE INFECTION; MALE; METABOLIC DISORDER; MONOSOMY; PHENOTYPE; RELIABILITY; URINARY EXCRETION;

AMINO ACID METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; DIARRHEA; FASTING; FEMALE; GLUTARATES; HUMANS; LIVER; LYSINE; MALE; PIPECOLIC ACIDS; RIBOFLAVIN;

EID: 0036822472     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1021207419125     Document Type: Article

References (11)

1. Al-Essa MA, Rashed MS, Bakheet SM, Patay ZJ, Ozand PT (2000) Glutaric aciduria type II: observations in 7 patients with neonatal- and late-onset disease. J. Perinatol 20: 120-128.
2. Bennett MJ, Pollitt RJ, Goodman SI, Hale DE, Vamecq J (1991) Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase deficiency: a new peroxisomal disorder. J Inherit Metab Dis 14: 165-173.
3. Cooke IE, Shelling AN, Le Meuth VG, Charnock ML, Ganesan TS (1996) Allele loss on chromosome arm 6q and fine mapping of the region at 6p27 in epithelial ovarian cancer. Genes Chromosomes Cancer 15: 223-233.
4. Hauptschein RS, Gamberi B, Rao PH, et al (1998) Cloning and mapping of human chromosome 6q26-q27 deleted in B-cell non-Hodgkin lymphoma and multiple tumour types. Genomics 50: 170-186.
5. Hoffmann GF, Zschocke J (1999) Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy. J Inherit Metab Dis 22: 381-391.
6. Hopkin RJ, Schorry E, Bofinger M, et al (1997) New insights into the phenotypes of 6q deletions. Am J Med Genet 70: 377-386.
7. Kölker S, Ahlemeyer B, Krieglstein J, Hoffman GF (2000) Maturation-dependent neurotoxicity of 3-hydroxyglutaric and glutaric acid in vitro: a new pathophysiologic approach to glutaryl-CoA dehydrogenase deficiency. Pediatr Res 47: 495-503.
8. Müller P, Buschmann J, Wagner L, Hoffmann GF (2001) Frühkindliche Hyperthyreose and eine seltene Variante der Glutaracidurie: Koinzidenz oder Kausalzusammenhang? Klin Pädiatr 213: 13-16.
9. Silva CG, Silva AR, Ruschel C, et al (2000) Inhibition of energy production in vitro by glutaric acid in cerebral cortex of young rats. Metab Brain Dis 15: 123-131.
10. Wendel U, Bakkeren J, de Jong J, Bongaerts G (1995) Glutaric aciduria mediated by gut bacteria. J Inherit Metab Dis 18: 358-359.
11. Zschocke J, Quak E, Guldberg P, Hoffmann GF (2000) Mutation analysis in glutaric aciduria type I. J Med Genet 37: 177-181.