Update on Neuropathies in Inborn Errors of Metabolism

Abstract

Neuropathies are relatively common in inborn errors of metabolism (IEMs); however, due to the early onset and severe, progressive course of many IEMs, they have not been very well researched yet. This article aims to review and compare neuropathies in inborn errors of metabolism, mostly with childhood and juvenile onset. Some of these diseases are treatable if diagnosed early and in many cases, the therapy can not only slow down disease progression, but can also reverse the changes already made by the condition.

Keywords

• inborn errors of metabolism
• peripheral neuropathy
• Fabry Disease
• porphyria
• small fiber neuropathy