Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030305 (pancreatitis)
 16,014 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a two-year-old girl who presented with coma following an upper respiratory tract infection. Nonketotic hypoglycemia, metabolic acidosis and mild hyperammonemia were detected. The urinary organic acid profile was consistent with glutaric aciduria type II. Pancreatitis was diagnosed at autopsy. Although pancreatitis has been described in a number of inborn errors of metabolism including organic acidemias, to the best of our knowledge this is the first report of acute pancreatitis occurring in glutaric acidemia type II. It was stressed, therefore, that this complication should be searched for in organic aciduria patients, and the measurement of plasma amylase and lipase levels should be added to the battery of laboratory investigations in such cases.
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PMID:Acute pancreatitis in a patient with glutaric acidemia type II. 933 18

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.
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PMID:Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis. 1535 Oct 24