Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis.
A 22-year-old woman had suffered from several episodes of acute pancreatitis since the age of 11. Other than exercise intolerance since early childhood, her psychomotor development was normal. At age 21, she experienced two episodes of generalized muscle weakness including acute respiratory failure and hepatomegaly. Liver biopsy indicated fatty metamorphosis, and muscle biopsy revealed vacuolar myopathy with lipid accumulation. Biochemical investigations demonstrated elevated serum creatine kinase and elevated 2-hydroxylglutaric, pyruvic, ethylmalonic, hippuric, adipic, and seburic acids in urinary organic acid analysis. These findings confirmed the diagnosis of glutaric aciduria type II. Although acute pancreatitis in glutaric aciduria type II has been reported previously, this is the first reported case of recurrent pancreatitis occurring in glutaric aciduria type II. We treated the patient with l-carnitine and riboflavin. As of the latest follow-up 2.5 years later, the patient has had no further episodes of muscle weakness or pancreatitis. We suggested analyzing urine organic acid when lipid storage myopathy is suspected.
Liang
Wen-Chen
WC
Department of Pediatrics, Kaohsiung Medical University Hospital, Taiwan.
Tsai
Kun-Bon
KB
Lai
Chiou-Lian
CL
Chen
Liang-Hui
LH
Jong
Yuh-Jyh
YJ
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D000328:Adult; D005260:Female; D005977:Glutarates / Q000378:metabolism*; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D010195:Pancreatitis / Q000188:drug therapy* / Q000201:enzymology* / Q000235:genetics; D010375:Pedigree; D012008:Recurrence; D012256:Riboflavin / Q000627:therapeutic use*
D005977:Glutarates; D042964:Acyl-CoA Dehydrogenase; C035736:glutaric acid; D012256:Riboflavin