Autism Studies and Related Medical Conditions, January 2009 - TACA

Amminger GP, Berger GE, Schafer MR, Klier C, Friedrich MH, Feucht M. Omega-3 Fatty
Acids Supplementation in Children with Autism: A Double-blind Randomized, Placebocontrolled
Pilot Study. Biol Psychiatry. 2006 Aug 22; [Epub ahead of print].
Department of Molecular and Cellular Biology, University of California, Berkeley,
USA. bames@chori.org
As many as one-third of mutations in a gene result in the corresponding enzyme
having an increased Michaelis constant, or K(m), (decreased binding affinity) for
a coenzyme, resulting in a lower rate of reaction. About 50 human genetic diseases
due to defective enzymes can be remedied or ameliorated by the
administration of high doses of the vitamin component of the corresponding
coenzyme, which at least partially restores enzymatic activity. Several singlenucleotide
polymorphisms, in which the variant amino acid reduces coenzyme
binding and thus enzymatic activity, are likely to be remediable by raising cellular
concentrations of the cofactor through high-dose vitamin therapy. Some
examples include the alanine-to-valine substitution at codon 222 (Ala222-->Val)
[DNA: C-to-T substitution at nucleo-tide 677 (677C-->T)] in
methylenetetrahydrofolate reductase (NADPH) and the cofactor FAD (in relation
to cardiovascular disease, migraines, and rages), the Pro187-->Ser (DNA: 609C--
>T) mutation in NAD(P):quinone oxidoreductase 1 [NAD(P)H dehy-drogenase
(quinone)] and FAD (in relation to cancer), the Ala44-->Gly (DNA: 131C-->G)
mutation in glucose-6-phosphate 1-dehydrogenase and NADP (in relation to
favism and hemolytic anemia), and the Glu487-->Lys mutation (present in onehalf
of Asians) in aldehyde dehydrogenase (NAD + ) and NAD (in relation to
alcohol intolerance, Alzheimer disease, and cancer).
PMID: 11916749 [PubMed - indexed for MEDLINE]
Arnold GL, Hyman SL, Mooney RA, Kirby RS. Plasma amino acids profiles in children
with autism: potential risk of nutritional deficiencies. J Autism Dev Disord. 2003
Aug;33(4):449-54.
Department of Pediatrics, University of Rochester Medical Center, Rochester, New York
14642, USA. georgianne_arnold@urmc.rochester.edu
The plasma amino acid profiles of 36 children with autism spectrum disorders
were reviewed to determine the impact of diet on amino acid patterns. Ten of
the children were on gluten and casein restricted diets administered by parents,
while the other 26 consumed unrestricted diets. No amino acid profile specific to
autism was identified. However, children with autism had more essential amino
acid deficiencies consistent with poor protein nutrition than an age/gender
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