A new treatment for 2-ketoglutaric aciduria: a case report

Introduction: 2-ketoglutaric aciduria is a rare inherited metabolic disorder characterized by deficiency of Ketoglutaric acid dehydrogenase complex.This enzyme catalyzes 2-ketoglutarate to yield CoA and NADH in three carboxylic acid cycle (TCA). So its deficiency cause defects in mitochondrial energy metabolism. The main manifestation are hypotonia, developmental delay, opisthotonos and ataxia. The most useful diagnostic test is urinary organic acid analysis. no specific treatments was not for this disorder.Materials & Methods: Case report:The 10-month-girl with consanguine parent referred by severe hypotonia and developmental delay. Other physical exam didn’t show any abnormality. Her mother had two abortions and one still birth. Blood gas analyze, blood ammonia, serum amino acid,muscle enzyme (CPK and aldolase), acylcarnitine profile in tandem mass spectrometry were normal. There isn’t any specific change in brain imaging. Urine organic acids were analyzed by Gas chromatography – mass spectrometry (GC-MS), that presence of the high amount of2-ketoglutaric acid (1327 mmol/mol creatinine, normal 837 mmol/mol creatinine).High dose thiamin (300 mg per day) started for her. Because the E1 component, 2-ketoglutarate dehydrogenase utilizes thiamine. After 5 month she could sit well and walk difficulty. we followed her. At ….. she presented seizure and mild acidosisResults: 2-ketoglutaric aciduria is rare progressive disorders that commonly presented by hypotonia. There aren’tany specific therapy for 2-KGA. Report of this case is considerable due to early diagnosis and partial response to treatment with thiamin and supportive care.Conclusion & discussion: 2-ketoglutaric aciduria is rare progressive disorders that commonly presented by hypotonia. There aren’tany specific therapy for 2-KGA. Report of this case is considerable due to early diagnosis and partial response to treatment with thiamin and supportive care.

کلیدواژه ها:

2-ketoglutaric aciduria ، Ketoglutaric acid dehydrogenase complex ، Thiamin