2004 study - All 100 children had mitochondrial disorder?

April 9, 2008

Title:

Relative Carnitine Deficiency in Autism.

Authors:

Filipek, ine A.1,2 filipek@...

Juranek, Jenifer1

Nguyen, Minh T.1

Cummings, Christa1

Gargus, J. Jay1,3,4

Source:

Journal of Autism & Developmental Disorders; Dec2004, Vol. 34 Issue

6, p615-623, 9p

Document Type:

Article

Subject Terms:

*CARNITINE

*DEVELOPMENTAL disabilities

*AUTISM

*BLOOD plasma

*PYRUVATES

*AVITAMINOSIS

Author-Supplied Keywords:

autism

hyperammonemia

Lactic acidosis

mitochondrial disease

Abstract:

A random retrospective chart review was conducted to document serum

carnitine levels on 100 children with autism. Concurrently drawn

serum pyruvate, lactate, ammonia, and alanine levels were also

available in many of these children. Values of free and total

carnitine (p < 0.001), and pyruvate (p=0.006) were significantly

reduced while ammonia and alanine levels were considerably elevated

(p < 0.001) in our autistic subjects. The relative carnitine

deficiency in these patients, accompanied by slight elevations in

lactate and significant elevations in alanine and ammonia levels, is

suggestive of mild mitochondrial dysfunction. It is hypothesized that

a mitochondrial defect may be the origin of the carnitine deficiency

in these autistic children. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Autism & Developmental Disorders is the

property of Springer Science & Business Media B.V. and its content

may not be copied or emailed to multiple sites or posted to a

listserv without the copyright holder's express written permission.

However, users may print, download, or email articles for individual

use. This abstract may be abridged. No warranty is given about the

accuracy of the copy. Users should refer to the original published

version of the material for the full abstract. (Copyright applies to

all Abstracts)

Author Affiliations:

1Department of Pediatrics, College of Medicine, University of

California, Irvine, CA.

2Division of Child Neurology, College of Medicine, University of

California, Irvine, CA.

3Division of Human Genetics, College of Medicine, University of

California, Irvine, CA.

4Department of Physiology and Biophysics, College of Medicine,

University of California, Irvine, CA.

April 9, 2008

Seems mitochondrial disorder is about as rare as cases of autism.

>

> Title:

> Relative Carnitine Deficiency in Autism.

> Authors:

> Filipek, ine A.1,2 filipek@...

> Juranek, Jenifer1

> Nguyen, Minh T.1

> Cummings, Christa1

> Gargus, J. Jay1,3,4

> Source:

> Journal of Autism & Developmental Disorders; Dec2004, Vol. 34 Issue

> 6, p615-623, 9p

> Document Type:

> Article

> Subject Terms:

> *CARNITINE

> *DEVELOPMENTAL disabilities

> *AUTISM

> *BLOOD plasma

> *PYRUVATES

> *AVITAMINOSIS

> Author-Supplied Keywords:

> autism

> hyperammonemia

> Lactic acidosis

> mitochondrial disease

> Abstract:

> A random retrospective chart review was conducted to document serum

> carnitine levels on 100 children with autism. Concurrently drawn

> serum pyruvate, lactate, ammonia, and alanine levels were also

> available in many of these children. Values of free and total

> carnitine (p < 0.001), and pyruvate (p=0.006) were significantly

> reduced while ammonia and alanine levels were considerably elevated

> (p < 0.001) in our autistic subjects. The relative carnitine

> deficiency in these patients, accompanied by slight elevations in

> lactate and significant elevations in alanine and ammonia levels,

is

> suggestive of mild mitochondrial dysfunction. It is hypothesized

that

> a mitochondrial defect may be the origin of the carnitine

deficiency

> in these autistic children. [ABSTRACT FROM AUTHOR]

> Copyright of Journal of Autism & Developmental Disorders is the

> property of Springer Science & Business Media B.V. and its content

> may not be copied or emailed to multiple sites or posted to a

> listserv without the copyright holder's express written permission.

> However, users may print, download, or email articles for

individual

> use. This abstract may be abridged. No warranty is given about the

> accuracy of the copy. Users should refer to the original published

> version of the material for the full abstract. (Copyright applies

to

> all Abstracts)

> Author Affiliations:

> 1Department of Pediatrics, College of Medicine, University of

> California, Irvine, CA.

> 2Division of Child Neurology, College of Medicine, University of

> California, Irvine, CA.

> 3Division of Human Genetics, College of Medicine, University of

> California, Irvine, CA.

> 4Department of Physiology and Biophysics, College of Medicine,

> University of California, Irvine, CA.

>

April 9, 2008

----- Original Message -----

From: Soliday

Title:

Relative Carnitine Deficiency in Autism.

Authors:

Filipek, ine A.1,2 filipek@...

Juranek, Jenifer1

Nguyen, Minh T.1

Cummings, Christa1

Gargus, J. Jay1,3,4

Source:

Journal of Autism & Developmental Disorders; Dec2004, Vol. 34 Issue

6, p615-623, 9p

Document Type:

Article

Subject Terms:

*CARNITINE

*DEVELOPMENTAL disabilities

*AUTISM

*BLOOD plasma

*PYRUVATES

*AVITAMINOSIS

Author-Supplied Keywords:

autism

hyperammonemia

Lactic acidosis

mitochondrial disease

Abstract:

A random retrospective chart review was conducted to document serum

carnitine levels on 100 children with autism. Concurrently drawn

serum pyruvate, lactate, ammonia, and alanine levels were also

available in many of these children. Values of free and total

carnitine (p < 0.001), and pyruvate (p=0.006) were significantly

reduced

====>This is odd, I thought pyruvate was elevated with mercury poisoning?

while ammonia and alanine levels were considerably elevated

(p < 0.001) in our autistic subjects. The relative carnitine

deficiency in these patients, accompanied by slight elevations in

lactate

====>I thought if lactate was elevated, then pyruvate would also be elevated?

and significant elevations in alanine and ammonia levels, is