Re: eyelashes and other characteristics(e)

January 14, 2004

Hi e,

Don't know if this will make any sense but here goes:

Abbey's lab work showed:

Increased blood lactate levels, plasma amio acid profile with a

significant elevation of proline and alanine and an increased

alanine/lysine ratio indicative of an increased pyruvic acidemia;

mildly depressed serum carnitine level and increased urinary excretion

of lactate and several hydroxy acids (3-hydroxyisobutyrate,

2-hydroxyglutarate, 3-hyroxyadipate), often associated with

mitochondrial redox abnormalities. Increased AST/ALT ratio (common in

mito disorders affecting muscle). Although none of the levels were

severe when Dr. Kelley reviewed Abbey's labs he said what was

significant was the pattern in which the abnormalities fell. he did

explain this to me but I am afraid I could not begin to completely

understand everything he said and would be afraid of giving you

incomplete info. The levels alone weren't enough to prove a mito

disorder but our neuro was so confident in his diagnosis of this that

he sent her labs to Dr. Kelley who was able to diagnose Complex I

without even seeing Abbey based on the patterns of her abnormalities.

We took her to Baltimore to see him and that is when he examined her

and prescribed her " cocktail " . If you have had lab work done (FISH

Analysis) but don't have a diagnosis I would recommend sending him a

copy. He reviewed Abbey's and called me himself to discuss treatment.

We chose to go to Baltimore although he said he would write her meds

and send them to us. We just wanted to talk with him and gather all

the info we could. He spent at least 3 hours with us without any

interruptions. He's a wonderful doctor. Hope this helps!

> In a message dated 1/12/2004 3:43:16 PM Eastern Standard Time,

> kristins74@y... writes:

> Also, we didn't have a muscle biopsy. Her testing

> showed biochemical abnormalities and the patterns in which her

> abnormalities fell were consistant with mito complex I.

> , would you mind passing on what those abnormalities are? Just

> curious, thanks!

>

> e, Chelsea's mom(nonspecific mito)

Recommended Posts