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Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis.
Pediatr Neurol. 2004 Sep; 31(3):218-21.PN

Abstract

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.

Authors+Show Affiliations

Department of Pediatrics, Kaohsiung Medical University Hospital, Taiwan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15351024

Citation

Liang, Wen-Chen, et al. "Riboflavin-responsive Glutaric Aciduria Type II With Recurrent Pancreatitis." Pediatric Neurology, vol. 31, no. 3, 2004, pp. 218-21.
Liang WC, Tsai KB, Lai CL, et al. Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis. Pediatr Neurol. 2004;31(3):218-21.
Liang, W. C., Tsai, K. B., Lai, C. L., Chen, L. H., & Jong, Y. J. (2004). Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis. Pediatric Neurology, 31(3), 218-21.
Liang WC, et al. Riboflavin-responsive Glutaric Aciduria Type II With Recurrent Pancreatitis. Pediatr Neurol. 2004;31(3):218-21. PubMed PMID: 15351024.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis. AU - Liang,Wen-Chen, AU - Tsai,Kun-Bon, AU - Lai,Chiou-Lian, AU - Chen,Liang-Hui, AU - Jong,Yuh-Jyh, PY - 2003/11/13/received PY - 2004/02/26/accepted PY - 2004/9/8/pubmed PY - 2004/12/16/medline PY - 2004/9/8/entrez SP - 218 EP - 21 JF - Pediatric neurology JO - Pediatr. Neurol. VL - 31 IS - 3 N2 - 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. SN - 0887-8994 UR - https://www.unboundmedicine.com/medline/citation/15351024/Riboflavin_responsive_glutaric_aciduria_type_II_with_recurrent_pancreatitis_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0887-8994(04)00220-6 DB - PRIME DP - Unbound Medicine ER -