Glutaric aciduria type I: unusual biochemical presentation.
Publication
, Journal Article
Campistol, J; Ribes, A; Alvarez, L; Christensen, E; Millington, DS
Published in: J Pediatr
July 1992
We describe a patient with glutaryl-coenzyme A dehydrogenase deficiency, demonstrated by a residual enzyme activity of only 1% in cultured fibroblasts. Although the clinical presentation was typical of glutaric aciduria type I, the urine concentrations of glutaric, glutaconic, and 3-hydroxyglutaric acids remained normal, even during episodes of clinical decompensation. An increased free glutarate level was demonstrated only in cerebrospinal fluid.
Duke Scholars
Published In
J Pediatr
DOI
ISSN
0022-3476
Publication Date
July 1992
Volume
121
Issue
1
Start / End Page
83 / 86
Location
United States
Related Subject Headings
- Skin
- Pediatrics
- Oxidoreductases Acting on CH-CH Group Donors
- Oxidoreductases
- Male
- Infant
- Humans
- Glutaryl-CoA Dehydrogenase
- Glutarates
- Fibroblasts
Citation
APA
Chicago
ICMJE
MLA
NLM
Campistol, J., Ribes, A., Alvarez, L., Christensen, E., & Millington, D. S. (1992). Glutaric aciduria type I: unusual biochemical presentation. J Pediatr, 121(1), 83–86. https://doi.org/10.1016/s0022-3476(05)82548-x
Campistol, J., A. Ribes, L. Alvarez, E. Christensen, and D. S. Millington. “Glutaric aciduria type I: unusual biochemical presentation.” J Pediatr 121, no. 1 (July 1992): 83–86. https://doi.org/10.1016/s0022-3476(05)82548-x.
Campistol J, Ribes A, Alvarez L, Christensen E, Millington DS. Glutaric aciduria type I: unusual biochemical presentation. J Pediatr. 1992 Jul;121(1):83–6.
Campistol, J., et al. “Glutaric aciduria type I: unusual biochemical presentation.” J Pediatr, vol. 121, no. 1, July 1992, pp. 83–86. Pubmed, doi:10.1016/s0022-3476(05)82548-x.
Campistol J, Ribes A, Alvarez L, Christensen E, Millington DS. Glutaric aciduria type I: unusual biochemical presentation. J Pediatr. 1992 Jul;121(1):83–86.
Published In
J Pediatr
DOI
ISSN
0022-3476
Publication Date
July 1992
Volume
121
Issue
1
Start / End Page
83 / 86
Location
United States
Related Subject Headings
- Skin
- Pediatrics
- Oxidoreductases Acting on CH-CH Group Donors
- Oxidoreductases
- Male
- Infant
- Humans
- Glutaryl-CoA Dehydrogenase
- Glutarates
- Fibroblasts