Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways

Molecular Genetics and Metabolism
Charles R RoeAlan Martin

Abstract

APBD is a rare disorder most often affecting adults of Ashkenazi Jewish origin due to partial deficiency of the glycogen brancher enzyme (GBE). It is characterized by progressive involvement of both the central and peripheral nervous systems and deposition of amylopectin-like polyglucosan bodies. There have been no metabolic derangements that might suggest effective therapy nor have there been any clinical improvements for control of its relentless progression. The APBD patients, in this study, experienced stabilization of disease progression, and limited functional improvement in most patients with dietary triheptanoin. Due to a plateau in clinical improvement, the reduced plasma creatinine and methionine levels prompted evaluation of other plasma methylation intermediates in this complex integrated pathway system: decreased S-adenosylmethionine (SAM) (p<0.002), increased S-adenosylhomocysteine (p<0.001), elevated creatine (p=0.001) and increased free choline (p<0.001). Plasma levels of homocysteine and guanidinoacetate were normal. Impaired metabolism of choline and creatine may relate to the progressive dysmyelination and progressive muscle weakness associated with APBD. The partial deficiency of GBE appears to produce a sec...Continue Reading

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Citations

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Nov 4, 2020·Journal of Inherited Metabolic Disease·Paulo Victor Sgobbi SouzaSalvatore DiMauro

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