Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis

Pediatric Neurology
Wen-Chen LiangYuh-Jyh Jong

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.

References

Jan 16, 1976·Clinica Chimica Acta; International Journal of Clinical Chemistry·H PrzyrembelS K Wadman
Dec 1, 1984·European Journal of Pediatrics·P D MooyH H van Gelderen
Jun 1, 1980·Neurology·J E CarrollJ M Hagberg
Dec 1, 1981·Neurology·J E CarrollJ M Hagberg

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Citations

Apr 20, 2010·Der Nervenarzt·T SkubanB Schoser
Feb 16, 2011·Muscle & Nerve·Pierre KaminskyChristine Vianey-Saban
Dec 22, 2005·Brain & Development·Neil Gordon
Jan 4, 2006·International Journal of Immunopathology and Pharmacology·S DomizioG Sabatino
Apr 8, 2021·Critical Reviews in Biochemistry and Molecular Biology·Sara MissagliaCorrado Angelini

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