It is interesting that the urine does not change a deeper color without the sodium hydroxide but it surely does turn black in an alkalotic environment. I continue to believe that this is alkaptonuria.

Bob

Robert Haws, M.D.
Pediatric Nephrologist
Marshfield Clinic

Do you know something about treatment of alkaptonuria?
Sincerely Yours,
Mikhail Kagan, M.D.,
Pediatric Nephrologist,
Orenburg regional children's hospital,
Ribakovskaya street 3, 460006,
Orenburg, Russia.
e-mail :mkaganorenburg@yahoo.com

The treatments are very limited. I have my patients take about 250 mg daily of ascorbic acid. I do not want them to take more than this amount because of the risk of oxalate stones. There are yet to be any other proven studies that demonstrate efficacy. I have recently emailed William Gahl for any updated advice he had for me. I will forward that email to you.

Bob

Hi, Dr. Haws,

1. No.
2. No. If you give it, don't give much (250 mg a day or so) because >1gm
might enhance oxalate stone formation. The vitamin C breaks down to oxalate.
3. No benefits; I see the CS breaking down in the gut. I think injections
into the joint could be helpful, as for animals, but would surely not
recommend that for this child.
4. We could not demonstrate efficacy of nitisinone in our clinical trial,
although it may actually work.

Best wishes.

-w. Gahl

I would bet on Alkaptonuria, too - your later chemical tests seem very
convincing.
If you have not the possibility of chromatography, there is no other way to
prove it.
No evidence-based treatment and/or recommendations until now, sorry.
Watch the kid, try some ascorbinic acid supplement, the diet is the tricky one
(never managed to ensure it here).
There is an increased stone formation risk - more fluids, perhaps?

Just curious - are there any Slovenians in the family tree?

Good luck,
Vladimirs

Vladimirs Strazdins, MD
Riga, Latvia

Here is the email from Dr Gahl
Dr Gahl,
>
> On the PEDNEPH listserv today a case was posted by a Russian pediatric
> nephrologist suggestive of Alkaptonuria. The case caused me to go back to my
> records on a 5 year old child with alkaptonuria. I have several questions if
> you would be willing to respond to:
>
> 1) Are there any clinical trials for the treatment of children with
> alkaptonuria with vitamin C?
> 2) If not, do you recommend vitamin C and what dose recommendation?
> 3) The mother is interested in giving chondrotin sulfate to the child. Any
> potential risks or benefits that you can see?
> 4) Any new therapies such as nitsinone?
>
>
> Robert Haws, M.D.
> Pediatric Nephrologist
> Marshfield Clinic

Hi, Dr. Haws,

1. No.
2. No. If you give it, don't give much (250 mg a day or so) because >1gm
might enhance oxalate stone formation. The vitamin C breaks down to oxalate.
3. No benefits; I see the CS breaking down in the gut. I think injections
into the joint could be helpful, as for animals, but would surely not
recommend that for this child.
4. We could not demonstrate efficacy of nitisinone in our clinical trial,
although it may actually work.

Best wishes.

-w. Gahl