Glutaric aciduria type I

Indian Pediatrics

Volumn 38, Issue 10, 2001, Pages 1148-1154

  Muranjan, Mamta N ^a,c   Kantharia, Vishakha ^a   Bavdekar, S B ^a   Ursekar, Meher ^b  

^a KEM HOSPITAL   (India)

^b BOMBAY HOSPITAL   (India)

^c NONE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTARIC ACID; GLUTARIC ACID DERIVATIVE;

ARTICLE; CASE REPORT; FEMALE; GENETICS; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MALE; METABOLISM; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; URINE;

CHILD, PRESCHOOL; FEMALE; GLUTARATES; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; METABOLISM, INBORN ERRORS;

EID: 0035490037     PISSN: 00196061     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. Hoffmann GF, Zschocke J. Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy. J Inher Metab Dis 1999; 22: 381-391.
2. Iafolla AK, Kahler SG. Megalencephaly in the neonatal period as the initial manifestation of Glutaric aciduria type I. J Pediatr 1989; 114: 1004-1006.
3. Forstner R, Hoffmann GF, Gassner I, Heideman P, De Klerk JBC, Lawrenz-Wolf B, et al. Glutaric aciduria type I: Ultrasonographic demonstration of early signs. Pediatr Radiol 1999; 29: 138-143.
4. Hoffmann GF, Trefz FK, Barth PG, Bohles H, Biggemann B, Bremer JH, et al. Glutaryl-Coenzyme A dehydrogenase deficiency: A distinct encephalopathy. Pediatrics 1991; 88: 1194-1203.
5. Poge AP, Autschbach F, Korall H, Trefz FK, Mayatepek E. Early clinical manifestations of Glutaric aciduria type I and nephrotic syndrome. Acta Pediatr 1997; 86: 1114-1147.
6. Morris AAM, Hoffmann GF, Naughten ER, Monavari AA, Collins JE, Leonard JV. Glutaric acidura and suspected child abuse. Arch Dis Child 1999; 80: 404-405.
7. Baric I, Wagner L, Feyh P, Liesert M, Buckel W, Hoffmann GF. Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurement by stable-isotope dilution assays for the diagnosis of Glutaric acidurai type I. J Inher Metab Dis 1959; 22: 867-882.
8. Bergman I, Finegold D, Garlton Gartner J Jr, Zitelli BJ, Classen D, Scarano J. Acute profound dystonia in infants with Glutaric acidemia. Pediatrics 1989; 83: 228-234.
9. Campistol J, Ribes A, Alvarez L, Christensen E, Millington DS. Glutaric aciduria type I: Unusual biochemical presentation. J Pediatr 1992; 121: 183-186.
10. Cho CH, Mamourian AC, Filiano J, Nordgren RE. Glutaric aciduria: Improved MR appearance after aggressive therapy. Pediatr Radiol 1995; 25: 484-485.
11. Amir N. Elpeloeg ON, Shalev RS, Christensen E. Glutaric aciduria type I: Enzymatic and neuroradiolgoci investigations of two kindreds. J Pediatr 1989; 114: 983-989.
12. Brismar J, Ozand PT. CT and MR of the brain in glutaric acidemin type I: A review of 59 published cases and a report of 5 new patients. Am J Neuroradiol 1995; 16: 675-683.
13. Godman SJ, Frerman FE. Organic acidemias due to defects of lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia. In: The Metabolic and Molecular Basis of Inherited diseases, 7th edn. Eds. Scriver CR, Beaudet AL, Sly WS, Valle D. New York, McGraw Hill 1995; Pp 1451-1460.
14. Ullrichy K, Flott-Rahmel B, Schluff P, Musshoff U, Das A, Lucke T, et al. Glutaric aciduria type I: Pathomechanisms of neurodeganeration. J Inner Metab Dis 1999; 22: 392-403.
15. Kolker S, Ahlemeyer B, Krieglstein J, Hoffmann CF. 3-hydroxyglutaric acid and glutaric acids are neurotoxic through NMDA receptors in vitro. S Inher Metab Dis 1999; 22: 259-262.