Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria

• Published in: European journal of paediatric neurology Vol. 13; no. 1; pp. 57 - 60
• Main Author: Yilmaz, Kutluhan
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01-01-2009
• Subjects: Adolescent; Brain Diseases, Metabolic, Inborn - diagnosis; Brain Diseases, Metabolic, Inborn - drug therapy; Brain Diseases, Metabolic, Inborn - physiopathology; Children; Cognition - drug effects; Cognition - physiology; Dose-Response Relationship, Drug; Glutarates - urine; Humans; L-2-hydroxyglutaric aciduria; Male; Neurology; Pediatrics; Psychomotor Performance - drug effects; Psychomotor Performance - physiology; Riboflavin; Riboflavin - administration & dosage; Riboflavin - therapeutic use; Treatment Outcome; Vitamin B Complex - administration & dosage; Vitamin B Complex - therapeutic use; Riboflavin; L-2-hydroxyglutaric aciduria; Children
• ISSN: 1090-3798; 1532-2130
• DOI: 10.1016/j.ejpn.2008.01.003

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 200 mg/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.