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L2Hydroxy Glutaric Aciduria

RuthCarty
0 Recommendations

My son is 26 and diagnosed with this neuro degenerative rare condition. Been in touch with Organic Acidemia assoc, also another mother with a younger child . Is there anybody out there that can give us any more information on the progressionof this condition and what to expect.I know it is been researched in Holland but is there anyway to get in touch with these doctors who know something about the condition. As far as we know he is the only one diagnosed in Irelandand nothing is known of it here. Hope somebody can help.

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Organic acidemia Keppra

10 replies

joseph_witalis

I wonder if you have tried going through the European Organization for Rare Disorders (http://www.eurodis.org). Since you are aware of a Netherlands connection, perhaps they would have more information on treatments, or on specialists who are working in this area.

Good luck in this search.

armenian

What are the symptoms ? When were they noticed ?
Was there any maternal exposures to anything that could have linked ?
was there any environmental problems that could have a link to the cause ?

was genetic testing done to determine if it is birth defect ?

did he get a flu or virus just before the change?

RuthCarty

Thanks for the information, sorry so late replying will get in touch with that website when holiday season over. Hope you had a good Christmas and have a Happy New Year. Ruth Carty

RuthCarty

Metabolic condition,genetic testing done, both parents need to be carriers but dont have to have disease.Our son is adopted no background. Symptoms mental delay, tremors , balance problems. Child born normal but releases an acid which is toxic to the brain and there is slow deterioration like MS. There are other acidurias where the patient cant break down proteins but this one is so rare the dont know how to treat it yet. Paul is now at the stage that he has walking problems, swallow and toilet problems. In the last year he is tube fed, his speech has also become worse and we dont know what is ahead. Happy New Year to You.

psjaquith

Tried to get you on my friend list. Dr. Cornelius Jakobs at the University of Amsterdam is the head of research of both L2HGA and D2HGA. A very good friend of mine would be ecstatic to hear from you and I am very pleased to make your acquaintance!..
Dottie Tyson - nashelem@aol.com - is the mother of a teenage daugher who has L2HGA. She is always hoping for contact from other parents. Of course, as your know we are rather sparse and spread out with 2-Hydroxyglutarics.
My e-mail address is psjaquith@aol.com. I also have a MySpace...www.myspace.com/bigsisd2hga..with a 2-hga blog on it.
I so look forward to hearing from you. I tried to get you to post on as a friend for this site......there are some parents in the UK who are members of another support group. Organic Acidemia Association... it is a useful support group while even though we all have different metabolic disturbances, we share a lot of similar problems.
Thank you for being here to post to.

psjaquith

On 2-hga's. There have been a couple cases of L-2-HGA and D-2-HGA combined. I'm not sure how many total have been identified. Most of the research is concentrated in the European sector. Our metabolic guy in Houston is also part of the research study team in D and L2hga's. His name is Dr. William Craigen at Texas Children's Hospital, Houston, TX. If you pull up clinic information, you'll be able to get his contact information and I believe there is one other fellow in that department who took part.

You will be interested to hear that Dr. Roe (now retired) did research for Baylor Medical Research in Dallas, TX. He retired last year. I did get to speak to him and asked about how their research pooled together as a team, by postal, e-mail, phone, or actual face-to-face round table discussions. I was pleased to hear that it was all of the above.

I do like for our researchers to see our children (even our older children!) so they can make some observations beyond just the office/clinician visits.

Penny Jaquith
Sherry - D2HGA - 6/5/91
Grace -- D2HGA - DOB/DOD 12/28/92
Nathan - HMMA (Hydromethylmalonic) - 7/13/94

Argentina

Hi my son is 5 years olda and he has been diagnosed alpha ketoadipic aciduria (i don´t know if this is the correct translation for ACIDURIA ALPHA CETO ADIPICA, in spanish).
I know this is very rare and I would like to meet other cases such as this.
Thank you very much

RuthCarty

Thank you for all your replies, you feel very isolated when so little is known of the condition,Paul is deterioting slowly and is now mostly wheelchair bound , speaks very little now but always has a smile which is good .The tiredness seems to be a big factor with Paul, is this part of the condition or meds Epilim or Keppra. He has been seizure free for quite a while now .He was getting a lot of urinary infections but has a bag now and is keep on low maintenance antibiotics. We weren't keen at first but he had been in and out of hospital very ill since January and since on the maintenance meds he has been great.Everything has to be done for him now but he always keeps cheerful. I would love Paul to see Drs who are familiar with the condition. It is probably too late for Paul but the fact that he is a lot older might give the drs something to go on and help the younger children. Paul was diagnosed very late , he had been wrongly diagnosed with C.P. Do keep in touch. Our email is donalruth@eircom.net

ginnicole40

I have Josh, who is now 12 years old. He was diagnosed with L2 Hydroxyglutaric when he was 4.5 years. He is in a special school with approx mental age of 7 years. He also has balance difficulties. Josh does not currently have any other symptoms. I would love to be in touch with any other families. I am already in touch with Merediths mum Dottie and have been for some time. If there is any way of being in touch with a specialist I would be grateful for contact details please and the merits of riboflavin.
Thank you x

Rosina

Hi all,
I have 2 daughters, both diagnosed with L2 HydroxyGlutaric Aciduria. 13 and 7 years old. It feels nice to know that we are not alone in this and can give moral support/share ideas with one another. Both my daughters have been on Riboflavin for a year now and the doctor started them on L-Carnitine too since February. But its difficult to say that these vits alone are reducing the acid levels and my girls levels fluctuate - does anyone have any suggestions? Has anyone been down the diet route? ie. limiting acidic fruit consumption?

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