Glutaric aciduria type I: Unusual biochemical presentation

The Journal of Pediatrics

Volumn 121, Issue 1, 1992, Pages 83-86

  Campistol, Jaume ^a,b,c,d   Ribes, Antonia ^a,b,c,d   Alvarez, Luisa ^a,b,c,d   Christensen, Ernst ^a,b,c,d   Millington, David S ^a,b,c,d  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b Institut de Bioquimica Clinica Barcelona   (Spain)

^c University of Copenhagen   (Denmark)

^d DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE;

ACIDURIA; ARTICLE; BIOCHEMISTRY; CASE REPORT; CELL CULTURE; CEREBROSPINAL FLUID LEVEL; ENZYME DEFICIENCY; FIBROBLAST; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MALE; PRIORITY JOURNAL;

CARNITINE; CASE REPORT; DIAGNOSIS, DIFFERENTIAL; FIBROBLASTS; GLUTARATES; HUMAN; INFANT; MALE; OXIDOREDUCTASES; SKIN;

EID: 0026663738     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(05)82548-X     Document Type: Article

References (16)

1. Glutaric aciduria: a “new disorder of amino acid metabolism”
2. Glutaric aciduria: clinical and laboratory findings in two brothers
3. Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds
4. Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver, application to glutaric aciduria type I
5. Acute profound dystonia in infants with glutaric acidemia
6. A case of glutaric acidemia type I: effect of riboflavin and carnitine
7. Gas chromatography method of analysis for urinary organic acids. Description of the procedure and its application to diagnosis of patients with organic acidurias
8. Application of fast-atom bombardement with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue
9. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle, and neutrophil leukocytes
10. CT appearence of low attenuation areas in basal ganglia in childhood: report of 23 cases
11. Progressive dystonia and dyskinesia in childhood
12. Macrocephaly an important indication for organic acid analysis
13. Vigabatrin in the treatment of glutaric aciduria type I
14. Phenotypic variability in glutaric aciduria type I: report of fourteen cases in five Canadian Indian kindreds
15. Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania
16. Glutaric acidemia as a cause of striatal necrosis in childhood