BH4 Response ?

[Guest guest]

Hi :

I don't know who to address by name ... But I saw someone say they have had a

good response to the BH4 , my also has the MTHFR 1298 gene . What kind of

response are you seeing with the BH4 ???My son hasn't responded to EFAs at all

..He is still non-verbal and he is turning 6 . Thanks, Marie

[ ] Re: why is fish oil working?

-,

VERY interesting response, we have had quite good response to BH4

supplementation. No PKU diagnosis though at all. But we do have MTHFR

1298 heterozygous polymorphism.

-- In , " "

<claudiamorris@...> wrote:

>

> We will be taking my son for a metabolic work-up at Stanford in the

near

> future. If it sheds any light on

> underlying mechanism I will certain post the info. Below is a

response I

> received from

> a pediatrician/metabolic specialist friend of a friend, who does

work on

> fatty acid oxidation. No answers,

> just more questions. But the word on apraxia and fish oil is still

not

> common knowledge even

> among pediatricians who focus on fatty acid metabolism. We will

have to

> change that. -

>

> --------------------------------------------------------------------

--------

> -------

>

> Apraxia is quite a non-specific finding and see it as an occasional

finding

> in my metabolic patients. My sense is that it is more common in the

> disorders of energy metabolism but this may just be an

ascertainment bias.

> My most dramatic case is a women with a respiratory chain defect in

whom

> this is a major problem. A high fat diet is often used in therapy

for these

> defects but seldom is as effective as you describe in your son.

> Nevertheless, he should have a complete metabolic evaluation to

look for

> known disorders if this hasn't already done. The metabolic group at

Stanford

> is certainly qualified

> to do this. While I doubt you'll find something previously

described, the

> results may point in useful direction. If you've had testing done,

I'd be

> happy to take a look at it if you provide me copies of the reports.

>

> The clinical improvement seen in your sone with the omega fatty acid

> supplement is striking. Most parents witnessing a placebo effect

will report

> an initial improvement that is not sustained. You, however, make a

very

> compelling story for the supplement overcoming a metabolic block in

your

> son. Such dramatic responses to supraphysiologic doses of something

are most

> suggestive of a transport defect (as in primary carnitine

deficiency, etc)

> or a cofactor deficiency (such as biopterin defects in PKU).

Alternatively,

> you may be overcoming some biosynthetic block through activation of

a

> secondary pathway. It's unlikely to be a degradative defect since

one would

> expect worsening with excess supplementation of the non-

metabolizable

> compound.

>

> Regardless, a good starting point would be to break down the

heterogenous

> preparation that you are using into it's individual components and

test

> these for bioefficacy. This would best be done in a Clinical

Research Center

> setting or at least through a metabolic center that could follow

metabolite

> profiles carefully through the changes. One might also be able to

follow

> things in cultured fibroblasts but only if the process involved was

> expressed in these cells. And of course, you'd loose the ability to

follow

> clinical response. Dr. Enns may also be able to facilitate some

baseline

> metabolic studies on and off therapy as a starting point.

>

> I'm sorry I can't provide more of a specific direction, but I think

it is

> worth your time pursuing this. Let me know if I can help further.

>

> -

>