Re: [mito] urine amino and organic acids?/ again

[Guest guest]

Sorry about the blank e-mail.

When your urine amino acids and organic acids were so out of whack did they think this was connected to the mito? My son's geneticist literally said "oh, b/c they don't show a known pattern, they're normal". But, they aren't at all, they are way abnormal. I vaguely remember someone telling me that so many amino acids and organic acids being out wack was due to the mito or an indicator of mito - but my son has yet to be diagnosed.

We see Shoffner in mid-January so we're hoping for answers.

Anne R

[Guest guest]

Anne,

What the geneticist probably meant was that the abnormalities did not

fit a SPECIFIC KNOWN genetic disorder like PKU etc. Kids with mito do

have out of range values for organic and amino acids. Amino acids can

be low in blood (due to problems with amino acids mobilization) or high

in urine (due to problems with reabsorption in the kidney). Organic

acids can be elevated as well. My son has had very high values for

3-hydroxypropionic, 3-hydroxybutaric, and acetoacetic acid. He has

done well since we added carnitor and IV glutathione.

AReckling@... wrote:

Sorry about the blank e-mail.

When your urine amino acids and organic acids were so out of whack did

they think this was connected to the mito? My son's geneticist

literally said "oh, b/c they don't show a known pattern, they're

normal". But, they aren't at all, they are way abnormal. I vaguely

remember someone telling me that so many amino acids and organic acids

being out wack was due to the mito or an indicator of mito - but my son

has yet to be diagnosed.

We see Shoffner in mid-January so we're hoping for answers.

Anne R

[Guest guest]

Anne,

What the geneticist probably meant was that the abnormalities did not

fit a SPECIFIC KNOWN genetic disorder like PKU etc. Kids with mito do

have out of range values for organic and amino acids. Amino acids can

be low in blood (due to problems with amino acids mobilization) or high

in urine (due to problems with reabsorption in the kidney). Organic

acids can be elevated as well. My son has had very high values for

3-hydroxypropionic, 3-hydroxybutaric, and acetoacetic acid. He has

done well since we added carnitor and IV glutathione.

AReckling@... wrote:

Sorry about the blank e-mail.

When your urine amino acids and organic acids were so out of whack did

they think this was connected to the mito? My son's geneticist

literally said "oh, b/c they don't show a known pattern, they're

normal". But, they aren't at all, they are way abnormal. I vaguely

remember someone telling me that so many amino acids and organic acids

being out wack was due to the mito or an indicator of mito - but my son

has yet to be diagnosed.

We see Shoffner in mid-January so we're hoping for answers.

Anne R

[Guest guest]

Anne,

What the geneticist probably meant was that the abnormalities did not

fit a SPECIFIC KNOWN genetic disorder like PKU etc. Kids with mito do

have out of range values for organic and amino acids. Amino acids can

be low in blood (due to problems with amino acids mobilization) or high

in urine (due to problems with reabsorption in the kidney). Organic

acids can be elevated as well. My son has had very high values for

3-hydroxypropionic, 3-hydroxybutaric, and acetoacetic acid. He has

done well since we added carnitor and IV glutathione.

AReckling@... wrote:

Sorry about the blank e-mail.

When your urine amino acids and organic acids were so out of whack did

they think this was connected to the mito? My son's geneticist

literally said "oh, b/c they don't show a known pattern, they're

normal". But, they aren't at all, they are way abnormal. I vaguely

remember someone telling me that so many amino acids and organic acids

being out wack was due to the mito or an indicator of mito - but my son

has yet to be diagnosed.

We see Shoffner in mid-January so we're hoping for answers.

Anne R