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: Kutluhan Yilmaz
• Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (Eur J Paediatr Neurol) Vol. 13 Issue 1 Pg. 57-60 (Jan 2009) ISSN: 1532-2130 [Electronic] England
• PMID: 18343698 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glutarates
• Vitamin B Complex
• alpha-hydroxyglutarate
• Riboflavin

Topics

• Adolescent
• Brain Diseases, Metabolic, Inborn (diagnosis, drug therapy, physiopathology)
• Cognition (drug effects, physiology)
• Dose-Response Relationship, Drug
• Glutarates (urine)
• Humans
• Male
• Psychomotor Performance (drug effects, physiology)
• Riboflavin (administration & dosage, therapeutic use)
• Treatment Outcome
• Vitamin B Complex (administration & dosage, therapeutic use)