L-2-Hydroxyglutaric aciduria and multiple acyl-coenzyme a dehydrogenase deficiency are distinct metabolic disorders

Journal of Pediatric Hematology/Oncology

Volumn 32, Issue 2, 2010, Pages 169-170

  Rakheja, Dinesh ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARATE DEHYDROGENASE; 2 HYDROXYGLUTARIC ACID; ACYL COENZYME A DEHYDROGENASE; ELECTRON TRANSFERRING FLAVOPROTEIN; ENZYME; UNCLASSIFIED DRUG;

ACIDURIA; BRAIN TUMOR; CLINICAL FEATURE; DISEASE ASSOCIATION; ELECTRON TRANSPORT; GENE MUTATION; HUMAN; INBORN ERROR OF METABOLISM; LETTER; LEVO 2 HYDROXYGLUTARIC ACIDURIA; MEDULLOBLASTOMA; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; PRIORITY JOURNAL; URINE LEVEL;

ALCOHOL OXIDOREDUCTASES; ELECTRON-TRANSFERRING FLAVOPROTEINS; GLUTARATES; HUMANS; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MUTATION;

EID: 77949463648     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e3181c67894     Document Type: Letter

References (5)

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2. Rzem R, Vincent MF, Van Schaftingen E, et al. L-2-hydroxyglutaric aciduria, a defect of metabolite repair. J Inherit Metab Dis. 2007;30:681-689.
3. Aghili M, Zahedi F, Rafiee E. Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. J Neurooncol. 2009;91:233-236.
4. Yee WC. Two eminently treatable genetic metabolic myopathies. Neurol India. 2008; 56:333-338.
5. Angle B, Burton BK. Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. Mol Genet Metab. 2008;93:36-39.