New to group; need info about muscle biopsy

[Guest guest]

.. Also, does anyone in the group have any experience

with Children's Hospital of Pittsburgh

I don't have any experience with that hospital personally, I have heard nothign but good about that hospital from people who have kids with all sorts of problems...

deb

[Guest guest]

.. Also, does anyone in the group have any experience

with Children's Hospital of Pittsburgh

I don't have any experience with that hospital personally, I have heard nothign but good about that hospital from people who have kids with all sorts of problems...

deb

[Guest guest]

In a message dated 2/9/02 10:29:57 AM Pacific Standard Time,

shannon@... writes:

<< but an organic acid was present >>

Did the urine organic acids results comment point to a particular organic

acidemia? What the elevated organic acid? You might check out

www.oaanews.org, to read about the different organic acidemias. There seems

to be a lot of overlap between some of the OAs and mito.

The docs wanted to do a muscle biopsy on for mitochondrial myopathy,

but the genetics doc suggested organic acid testing first when was

sick. The results showed Ketone Utilization Disorder (also called

mitochondrial acetyl CoA thiolase deficiency) and while they have then done a

skin biopsy, he has been spared a muscle biopsy for now!!

Dena

[Guest guest]

Hi. My name is Sharon and I'm new to this group.

My daughter (age 5) is currently being tested for mito after

about 1.5 years of cyclical vomiting. She's had 3 blood tests showing

elevated lactate and pyruvate levels and urinalysis showed normal

amino acids but an organic acid was present. We're waiting for

results from another series of blood tests. The genetics dr. just

decided she wants a skin and muscle biopsy done.

I'd appreciate any info about the muscle biopsy so I have an idea

what to expect. Also, does anyone in the group have any experience

with Children's Hospital of Pittsburgh?

I've been reading the messages on this website for a couple months

but only posted once. It really helps to read about your experiences.

Thanks for sharing! It also makes me realize how much I need to

learn. Thanks for your help.

Sharon

[Guest guest]

Hi Sharon, welcome. I am very familiar with Children's Hospital of Pittsburgh and would be happy to answer any questions or direct you to the doctors most familiar with mito. Are you seeing anyone there already or do you plan to go there in the future? , mom to Noah, still undiagnosed

[Guest guest]

Hi Sharon, welcome. I am very familiar with Children's Hospital of Pittsburgh and would be happy to answer any questions or direct you to the doctors most familiar with mito. Are you seeing anyone there already or do you plan to go there in the future? , mom to Noah, still undiagnosed

[Guest guest]

We just started seeing Dr. Bay in genetics (since January). was

originally seen in GI by Dr. Sabri and Dr. DiLorenzo and they

referred her to Dr. Bay. I would be very curious as to which doctors

you feel are most familiar with mito. We have an appt. with Dr.

Gaines in pediatric surgery regarding the muscle biopsy.

Thanks for your help.

Sharon, mom to

> Hi Sharon, welcome. I am very familiar with Children's Hospital of

> Pittsburgh and would be happy to answer any questions or direct you

to the

> doctors most familiar with mito. Are you seeing anyone there

already or do

> you plan to go there in the future? , mom to Noah, still

undiagnosed

[Guest guest]

We just started seeing Dr. Bay in genetics (since January). was

originally seen in GI by Dr. Sabri and Dr. DiLorenzo and they

referred her to Dr. Bay. I would be very curious as to which doctors

you feel are most familiar with mito. We have an appt. with Dr.

Gaines in pediatric surgery regarding the muscle biopsy.

Thanks for your help.

Sharon, mom to

> Hi Sharon, welcome. I am very familiar with Children's Hospital of

> Pittsburgh and would be happy to answer any questions or direct you

to the

> doctors most familiar with mito. Are you seeing anyone there

already or do

> you plan to go there in the future? , mom to Noah, still

undiagnosed

[Guest guest]

The elevated organic acid was 3 methyl glutaconic acid but that's all

I know for now. (This is still very new to me but I'm trying to

learn!) I'll check out the website you suggested.

Thanks,

Sharon, mom to

> In a message dated 2/9/02 10:29:57 AM Pacific Standard Time,

> shannon@a... writes:

>

> << but an organic acid was present >>

>

> Did the urine organic acids results comment point to a particular

organic

> acidemia? What the elevated organic acid? You might check out

> www.oaanews.org, to read about the different organic acidemias.

There seems

> to be a lot of overlap between some of the OAs and mito.

>

> The docs wanted to do a muscle biopsy on for mitochondrial

myopathy,

> but the genetics doc suggested organic acid testing first when

was

> sick. The results showed Ketone Utilization Disorder (also called

> mitochondrial acetyl CoA thiolase deficiency) and while they have

then done a

> skin biopsy, he has been spared a muscle biopsy for now!!

>

> Dena

[Guest guest]

The elevated organic acid was 3 methyl glutaconic acid but that's all

I know for now. (This is still very new to me but I'm trying to

learn!) I'll check out the website you suggested.

Thanks,

Sharon, mom to

> In a message dated 2/9/02 10:29:57 AM Pacific Standard Time,

> shannon@a... writes:

>

> << but an organic acid was present >>

>

> Did the urine organic acids results comment point to a particular

organic

> acidemia? What the elevated organic acid? You might check out

> www.oaanews.org, to read about the different organic acidemias.

There seems

> to be a lot of overlap between some of the OAs and mito.

>

> The docs wanted to do a muscle biopsy on for mitochondrial

myopathy,

> but the genetics doc suggested organic acid testing first when

was

> sick. The results showed Ketone Utilization Disorder (also called

> mitochondrial acetyl CoA thiolase deficiency) and while they have

then done a

> skin biopsy, he has been spared a muscle biopsy for now!!

>

> Dena