title: Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria.
abstract: L-2-hydroxyglutaric aciduria (LHGuria) is a rare neurometabolic disorder, which has characteristic clinical and laboratory features. The recent findings imply that LHG dehydrogenase is responsible for the disease and is FAD-dependent. Therefore, it might be expected that riboflavin could enhance any residual activity. We present our observations from nearly 2-year-long riboflavin treatment in a 16-year-old boy with LHGuria. During riboflavin treatment of 100 mg/d, partial improvement in his cognitive and motor performances was observed. Urinary LHG excretion decreased from 5990 mmol/mol creatinine to 1490 mmol/mol creatinine. Moreover, when riboflavin treatment was interrupted, significant disturbances in both symptoms and urinary LHG excretion (6360 mmol/mol creatinine) occurred in the patient. After the resettlement of riboflavine treatment, the patient resumed to his previous clinical status in a week. The improvement went further minimally under the dose of 200mg/d, but no further improvement happened with 300 mg/d. The present case suggests that riboflavin could be considered as a potential therapeutic approach in LHGuria until the optimal treatment of LHGuria is established.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Gaziantep University, Turkey. drkutluhan@yahoo.com
authors.forename: Kutluhan
authors.initials: K
authors.lastname: Yilmaz
mesh_terms: D000293:Adolescent; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000188:drug therapy* / Q000503:physiopathology; D003071:Cognition / Q000187:drug effects / Q000502:physiology; D004305:Dose-Response Relationship, Drug; D005977:Glutarates / Q000652:urine*; D006801:Humans; D008297:Male; D011597:Psychomotor Performance / Q000187:drug effects / Q000502:physiology; D012256:Riboflavin / Q000008:administration & dosage / Q000627:therapeutic use*; D016896:Treatment Outcome; D014803:Vitamin B Complex / Q000008:administration & dosage / Q000627:therapeutic use
chemical_list: D005977:Glutarates; D014803:Vitamin B Complex; C019417:alpha-hydroxyglutarate; D012256:Riboflavin