Peripheral neuropathy and inborn errors of metabolism in adults

[Guest guest]

J Inherit Metab Dis. 2007 Sep 21

Peripheral neuropathy and inborn errors of metabolism in adults.

Sedel F, Barnerias C, Dubourg O, Desguerres I, Lyon-Caen O,

Saudubray JM.

Federation of Nervous System Diseases, Salpêtrière Hospital, 47

Boulevard de l'Hôpital, 75651, Paris cedex 13, France.

Although they are classically viewed as paediatric diseases, it is

now recognized that inborn errors of metabolism (IEMs) can present

at any age from childhood to adulthood. IEMs can involve the

peripheral nervous system, mostly as part of a more diffuse

neurological or systemic clinical picture. However, in some cases,

the neuropathy can be the unique initial sign. Here, based on our

personal experience and on a comprehensive literature analysis, we

review IEMs causing neuropathies in adults. Diseases were classified

according to the predominant type of neuropathies into (1) acute

neuropathies, (2) mononeuropathy multiplex, (3) chronic axonal

polyneuropathies, (4) chronic demyelinating polyneuropathies, (5)

small-fibre neuropathies, and (6) lower motor neuron disease.

[Guest guest]

Is this saying we might metabolize nutrients differently from others, due to a

mutation in our DNA?

[Guest guest]

That's how I read it, Auggie. Interesting huh? Although it was about

PN and not CMT directly.

[Guest guest]

What are the inborn errors of metabolism? Are there tests? Does this mean

that people with negative gene tests might actually have an inborn error of

metabolism instead of late onset CMT? I tried to access articles but they all

wanted money for something I could read and probably not understand, lol.

Elinor

[Guest guest]

Elinor,

Ask your doc to get the paper for you and read it together. You ask

some excellent questions that your doc and a geneticist should be able

to answer. Remember, this paper was on PN, not " CMT specific " , but

certainly is worth exploring further.

~ Gretchen

[Guest guest]

That's really interesting. For years, I've taken various vitamins, minerals,

etc., and been on various diets, without ever experiencing the Gestalt moment,

the 'a-ha, ... this works for me' moment. Still searching. Really interesting.

[Guest guest]

Gretchen,

I like the idea of getting the articles and reading them with the doctors. I am

educated about the body due to my B.S. degree, However, there are always things

that seem to need some clarification. Good idea.

Dawn