DS & Leukemia-carnitine deficiency
Kinsman & Helen Boisseaux
Len wrote:
>I'm intrigued. How was this diagnosed, and how is he doing on the
carnitine?
Hayden's dx came as a last ditch effort on the part of his neurologist.
Shortly after birth he began turning blue, about 5 hours later he had to be
put on a ventilator. His heart rate dropped to 45 beats per min and had to
be medicated for that. Numerous tests including MRI, EEG, heart & brain
ultrasounds showed no reasons for his condition, which continued to worsen.
The neuro ordered the test for carnitine but the results would take about 4
days to get back. With our permission he started medication that day, within
36 hours his heart rate had returned to normal and he was taken off the
ventilator. The test eventually came back with a low count.
Hayden does really well on the carnitine aside from the ocassional fishy
smell (side effect). He has been signing since 14 months, and is now
starting to put signs togeter ("more milk" "daddy gone") and says or
approximates about 26 words and is trying to count his fingers. There is a
web page with info on carnitine deficiency (I can find the address if you're
interested) but it shows no link to ds. I have heard of a link but can't
find any info, have you hear of such a link?
Helen
Len Leshin
There have been no studies that show children with DS having a carnitine
deficiency (and my son's carnitine level was normal; we had it checked at
the beginning of the ketogenic diet). However, two studies out of Italy
dealing with carnitine supplements appeared to show cognitive improvement
in older children with DS. The papers are in my office and I can't comment
for sure right now, but I seem to remember there were some methodologic
problems. However, there have been no follow-up studies.
Len L.
Seonaid Leonard
Whilst we're on the carnitine topic, I thought that I'd mention that here
in Oz we are doing a double blind randomised controlled trial of carnitine
supplements in girls with Rett syndrome (a cause of severe physical and
intellectual disability, only in girls). The results are being analysed at
the moment. The reason why this study has been done is that there have been
some anecdotes of increased cognitive performance with carnitine
supplements.
Cheers
Seonaid
Seonaid Leonard BSc.
" A Western Australian Down Syndrome Study"
TVW Telethon Institute for Child Health Research
PO Box 855
West Perth
WA 6872
ph 61 - 8 - 9340 8725
fax 61 - - 9388 3414
after hours phone 61 - 8 - 9298 8612
Len Leshin
At 09:20 PM 7/17/97 GMT, Shannon Russeff wrote:
>Hello, All -
>Back in December I received a translation of an Italian study of the
>effects of Acetyl-L-Carnitine (or L-Acetyl-Carnitine, supposed to be the
>same) on folks with DS.
>
>Before I go and transcribe the report and post it to the list, I have a
>question for you in the med field: What have you heard about LAC?
>Pros/Cons?
>
>It caught my eye when an article was published in JAMA during the summer
>of '95, discussing the study and its' results. (If JAMA publishes
>results of a study, does this necessarily infer a recommendation? I've
>not seen any other articles published on LAC and DS since then, only
>heard rumor of a study at Brown Univ. that supposedly was done but
>followed up so poorly/poorly documented that the results were, once
>again, inconclusive...)
>
>If you don't have access to a copy of the JAMA article, or if you'd like
>to review the translation (provided by Sigma-Tau pharmaceuticals), just
>drop me a line.
>
>I'd like to get your feedback BEFORE I post the LAC info to the group.
>There's so much heated controversy of late that I don't feel comfortable
>adding to the "heat" right now.
>
>Thanks in advance!
I don't think you'll get any heat over carnitine.
I can't find any JAMA article about it; I'd love to get a copy, especially
if it's in english ( a great deal of the carnitine research is in Italian).
By the way, JAMA (and other journals) don't "endorse" anything except with
editorials. I've seen a number of cases in which a study is published due
to its merits, and the editor truns around and writes a contrary editorial
and explains why he's contrary.
--------------------------------------------------------------------------
OK, here are the two abstracts I have on the subject:
De Falco FA; D'Angelo E; Grimaldi G; Scafuro F; and others
[Effect of the chronic treatment with L-acetylcarnitine
in Down's syndrome]
Cattedra di Neurofisiopatologia, II Facolta di Medicina
e Chirurgia, Universita degli Studi di Napoli.
Language: Ita
Clin Ter 1994 Feb;144(2):123-7
Abstract:
Neuropsychologic tests were performed in subjects with Down
syndrome in order to assess the effect of a 90-day treatment with
L-acetyl-carnitine (LAC). Findings were evaluated statistically
(Wilcoxon test) and compared to three further groups of subjects:
untreated Down syndrome, mental deficiency due to other cases
treated and not treated with LAC (Mann-Whitney U-test). Treated
Down syndrome patients showed statistically significant
improvements of visual memory and attention both in absolute
terms and in comparison with the other groups. No improvement was
found in mentally deficient non-Down subjects, so that the
favourable effect of LAC appears to be specific for Down
patients. In view of the analogies of the pathology and
neurochemistry between Down syndrome and Alzheimer degenerative
deficiency (deficit of cholinergic transmission) it is suggested
that the action of LAC in these pathologies is related to its
direct and indirect cholinomimetic effect.
Colombo ML; Girardo E; Gallo M; Ricci BM; Maina D
[Carnitine and Down's syndrome]
Language: Ita
Minerva Pediatr 1989 Apr;41(4):173-6
Abstract:
The present study revealed a degree of carnitine deficiency in a
large percentage of Down's syndrome children. In fact below
average carnitine levels were noted in 39.1% of the cases
examined with severe deficiency in 4. On the basis of these data
supplementary carnitine is recommended in cases of deficiency
particularly in view of the value of carnitine in the prevention
of cell aging.
-----------------------------------------------
Unfortunately, since I haven't read them, I can't comment on them.
Len Leshin, MD, FAAP
Father to Avi, 3 (DS) and Nathan, 5
mailto:lle...@davlin.net
New URL: <http://www.davlin.net/users/lleshin>
Len Leshin
At 11:10 AM 7/18/97 -0700, Russeff, Shannon D wrote:
>Will send out additional info on LAC early next week.
>
>And yes, there is a difference between L-carnitine & LAC, but I'm
>hard-pressed to explain it...any docs out there who'd like to jump in?
OK, the main role of the compound levo-carnitine is to help fatty acid
compounds get into the part of the muscle and heart cell called the
mitochondria, where they can be used for energy generation. L-carnitine
exists on the outside of the mitochondria and is converted to
acyl-carnitine (not acetyl) which then goes into the mitochondria. Then,
it goes back out and becomes L-carnitine again. Deficiencies of carnitine
present as muscle disorders in children.
The L-acetyl-carnitine is used in the nervous system, and appears to
enhance the activity of nerve growth factor. The body can convert
L-carnitine into acetyl-carnitine. Researchers are looking at
acetyl-carnitine as a treatment for Alzheimer's. It is also used in HIV
positive patients who develop a drug-induced neuropathy from the anti-HIV
drugs.
L-carnitine is a prescription product. L-acetyl-carnitine is not, and is
seen in many a health food store being promoted as a "smart drug."