scholarly journals Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase

JIMD Reports ◽  
2019 ◽  
Vol 47 (1) ◽  
pp. 30-34 ◽  
Author(s):  
Verena Peters ◽  
Marina Morath ◽  
Matthias Mack ◽  
Michael Liesert ◽  
Wolfgang Buckel ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Medium Chain ◽  
Glutaric Aciduria Type I ◽  
Chain Acyl ◽  
Hydroxyglutaric Acid

scholarly journals Endothelial Effects of 3-Hydroxyglutaric Acid: Implications for Glutaric Aciduria Type I

2006 ◽  
Vol 59 (2) ◽  
pp. 196-202 ◽  
Author(s):  
Chris Mühlhausen ◽  
Nicola Ott ◽  
Fariba Chalajour ◽  
Derya Tilki ◽  
Folke Freudenberg ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I ◽  
Hydroxyglutaric Acid

Use of guidelines improves the neurological outcome in glutaric aciduria type I

2010 ◽  
Vol 41 (02) ◽  
Author(s):  
J Heringer ◽  
SPN Boy ◽  
R Ensenauer ◽  
B Assmann ◽  
J Zschocke ◽  
...  
Keyword(s):  
Neurological Outcome ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

Development of Neuropsychological Functions in Patients with Glutaric Aciduria Type I

2014 ◽  
Vol 45 (S 01) ◽  
Author(s):  
N. Boy ◽  
J. Heringer ◽  
G. Haege ◽  
E. Glahn ◽  
G. Hoffmann ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I ◽  
Neuropsychological Functions

scholarly journals Glutaric aciduria type I: Pathomechanisms of neurodegeneration

1999 ◽  
Vol 22 (4) ◽  
pp. 392-403 ◽  
Author(s):  
K. Ullrich ◽  
B. Flott-Rahmel ◽  
P. Schluff ◽  
U. Musshoff ◽  
A. Das ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

scholarly journals Early Detection of Glutaric Aciduria Type I by Newborn Screening in Taiwan

2008 ◽  
Vol 107 (2) ◽  
pp. 139-144 ◽  
Author(s):  
Chin-Tung Hsieh ◽  
Wuh-Liang Hwu ◽  
Yuan-Te Huang ◽  
Ai-Chu Huang ◽  
Shiao-Fang Wang ◽  
...  
Keyword(s):  
Early Detection ◽  
Newborn Screening ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

scholarly journals Glutaric aciduria (type I): prenatal ultrasonographic findings

2002 ◽  
Vol 20 (3) ◽  
pp. 305-307 ◽  
Author(s):  
S. K. Lin ◽  
S. G. Hsu ◽  
E. S. C. Ho ◽  
C. R. Tsai ◽  
Y. T. Hseih ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

Glutaric aciduria (type I)

2020 ◽  
pp. 70-81
Author(s):  
William L. Nyhan ◽  
Georg F. Hoffmann ◽  
Aida I. Al-Aqeel ◽  
Bruce A. Barshop
Keyword(s):  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

Hypothesis: A Role for Quinolinic Acid in the Neuropathology of Glutaric Aciduria Type I

1987 ◽  
Vol 14 (S3) ◽  
pp. 441-443 ◽  
Author(s):  
Melvyn P. Heyes
Keyword(s):  
Quinolinic Acid ◽  
Autosomal Recessive ◽  
Glutaric Aciduria Type ◽  
Mass Action ◽  
Type I ◽  
Law Of Mass Action ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I ◽  
The Central Nervous System ◽  
The Brain

ABSTRACT:Glutaric aciduria type I is an autosomal recessive metabolic disorder of children associated with severe dystonic motor disturbances and degeneration in the cerebral cortex, striatum and cerebellum. Biochemical studies demonstrate a deficiency in the enzyme glutaryl-CoA dehydrogenase. This enzyme metabolizes substrate derived from dietary tryptophan that could otherwise be converted to quinolinic acid within the brain. The law of mass action predicts that the production of quinolinic acid should be increased in glutaric aciduria type I. Quinolinic acid is a potent neurotoxin and convulsant when it is injected into the central nervous system of experimental animals. This paper argues that quinolinic acid may accumulate within the brain and cause the neuropathology of glutaric aciduria type I.

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