Re: Attn: Carnitine experts//

[Guest guest]

We have just now got back from 's follow up endo appt this morn actually

, where his carnitine issue came up - they basically went thru all his

abnormal bloods, and carnitine is his most 'out there' result, (last level was

done in July) so he discussed it a fair bit. I can't recall his exact levels,

will have a dig later and post them to compare.

He examined v thoroughly, and agreed with me, no pressing need in his

opinion to supplement him, he is non-symptomatic except for the slow growth

issue - which he believes with is more a combination of things, ie - poss

carn def, poss zinc def, topomax, mild chronic acidosis, prolonged state of

ketosis, and the list goes on....

He said yes, supplementing with carnitine, zinc, and adding some bicarb to

combat the acidity may all help his growth rate improve, but except for the zinc

(which he thinks isn't really that big a deal growth wise anyway), these

measures have previously resulted in seizures break through or increase with

, and basically priority wise - continued seizure freedom was at the top

of the list. Maybe if we reach the 12 mth seizure free mark we will start

playing around a bit in late Dec. Gulp.

Soooo, on we plod knowing that overall has some deficiency issues, but

no one is keen on upsetting the seizure freedom status quo. He may be fine right

now even if we made those changes, who knows, but.....

Anyways....It does sound to me from 's symptoms though, like it would be

maybe worth trying him on some carnitine - Dr Freeman recommends supplementing

for a month to see if there is any clinical improvement, and yes, did

react badly to it, but - he reacts excessively to most things (!!) so don't let

that put you off toooo much

If you see any signs at all of an adverse reaction, well, pull the plug sooner

rather than later, at least you will then know that it has to be crossed off the

list for the future. And yes - on the other hand, it may well be his answer, the

last piece of the puzzle so to speak. If not, well then, onwards to other

measures...

Starting slowly and incrementing up every 2-3 days to reach between 50 and 100

mgs per kg per day is the usual recommendation, it took us 2 weeks to get to a

'theraputic' level of 50 mgs per kg with , but when his follow up levels

came back after we pulled the plug on it, he had overshot the mark, hugely over

the top in all areas on the profile. This is not supposed to do any harm, just

gets termed 'expensive urine', in other words what the body doesn't need, it

just gets peed out, but it was still a shock to see how high he had actually

got.

Re the cal/ratio issue, if you are going to try the carnitne, I really would

not alter anything else till after it is in the theraputic range. If does

have an issue with efficent fat metabolism due to a carnitine deficiency, and

the supplementing 'fixes' that, then you might see a marked difference in quite

a few areas. 's cal intake for example, I believe was far too low for when

everything started 'speeding up', and carn is known as a 'fat busting'

supplement, allowing easier burning of body fat etc - meaning that you may have

to reverse back any changes you were about to make now.

Depends though on which way you want to go first - see if you can fix things

with carnitine, or see if by altering his diet you can get away with not

supplementing...

It can take a fair while for carnitine issues to show on the diet from what I

can gather - I know that was fine for his first yr or so, but after time

it seemed to start having an effect, a bit different with us though because of

the depakote being included in the equation.

If it were me, I think I would keep things as is and see if adding carn makes

a positive difference, in weight, height, energy and seizure control. Any

seizure increase, ditch immediately, any improvement, keep on incrementing up

till you feel he is in the right place clinically, and get follow up bloods to

compare to his last levels. Any huge increase in ketones has to be watched for -

like either from increased body fat buring or from burning thru caloric fat more

efficiently, so keep a v close eye on his weight too.

I'll send you thru a paper on carnitine and the diet that I have here that

sets out how that ratio is determined when a carn profile is done, at least

you'll have it for the next time he is tested.

----- Original Message -----

From: michelle paulson

Hi -

Boy, you qualify as an " expert " to me - Thank you for

all that info! Wish I would have consulted w/you

instead of my neuro b/c my neuro only requested a

" carnitine level " instead of " profile " which means I

only got one number. What a waste of time. Pisses me

off, actually, and will ask her why she didn't order a

profile when she finally decides to call about the low

number in the first place.

Two things - one - was reading that if it is a true

primary deficiency, red flags would have been raised

at his biochemical screening test when initiating the

diet one year ago. Apparently highly elevated

dicarboxylic acids in the urine signal a problem w/the

normal pathway of metabolism. All tests came back

perfect at that time. Plus, looking back - had a

" profile " done in March of this past year and they

were OK. So... something has happened since then.

Probably has something to do w/me taking away animal

fat/protein the past 3 months. He hasn't ingested any

food to produce it though, I guess his body could have

endogenously been producing. If anything - a

secondary deficiency due to the diet but still

interfering w/his body being able to burn fat.

Troubling.

He certainly has the symptoms - mainly hypotonia and

uncoordination but it's definitely gotten worst.

Defintely has slowed down ht. wise and has gained

weight. Nothing else " stands out " .

He has gained over a lb. in the past month with no

recent growth in height. My soon-to-be new

nutritionist has not met him yet but got his paperwork

and called to tell me she figured him to be in the

980-1030 cal. range (he's at 1080 now) w/16.8g protein

(he's currently getting 19g/day). So, we are in the

ball park but I may need to do some adjusting there to

compensate for this recent weight gain. We meet w/her

Sept. 30 so I don't know if I should sit tight until

then or reduce one or both (cals/protein) before we

meet. Any suggestions?

So, had problems on carnitine, huh? I've

certainly read that it is common so that's why I'm

scared although it would certainly be nice to be on

the opposite end and see those last seizures disappear

w/regained strength. He used to be my strongest kid.

MANY thanks, , our resident expert on nearly all

aspects of this diet - sure is a bummer that you don't

get paid the bookoo bucks that some of our incompetent

Dr.s do to figure things out.

(mom to )