65% Autistic Children Found To Have Mitochondrial Disorder

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Mitochondrial Dysfunction is a very common problem amongst children on the spectrum. NEWS12 - LI Naturally host Mary Mucci spent hours with my colleague, Dr. Michael Gruttadauria and two moms of patients in his practice last week for an upcoming story on Autism and Mitochondrial Dysfunction.


See the story here:




"There are two boys with Autism in my practice whose moms have given them baby brothers recently. We wanted to see if siblings of children on the spectrum indeed had metabolic issues and/or Mitochondrial Dysfunction. Metametrix donated their Organic Acids Profile for both families so we could test these two babies for clinical signs of metabolic imbalance/Mitochondrial Dysfunction."


"Because both babies are developing typically, both mom's were shocked to find out that their boys indeed had metabolic changes, including markers for Mitochondrial Dysfunction, come back in the test results."


"You can read more about Mitochondrial Dysfunction in the article below, and sign up for a FREE teleconference on Autism that I am hosting on August 14th at 7 pm EST by clicking this link which will take you to a registration page." www.justaskdrmike.com




65% Autistic Children Found To Have Mitochondrial Disorder

At an American Academy of Neurology meeting last Sunday it was revealed in a recent research paper, see below, that 65% of children with Austistic Spectrum Disorders assessed were found to have mitochondrial disorder (MtD) and so were always at risk of autism caused by one or more vaccines.

Oxidative Phosphorylation (OXPHOS) Defects in Children with Autistic Spectrum Disorders [IN1-1.004]

John Shoffner, Lauren C. Hyams, Genevieve N. Langley, Atlanta, GA

OBJECTIVE: To retrospectively survey patients with autistic spectrum disorders that were evaluated clinically for mitochondrial disease and to assess the clinical and laboratory features of this group of patients.

BACKGROUND: Autism is a developmental disorder characterized by disturbance in language, perception and socialization. A variety of biochemical, anatomical and neuroradiographical studies imply a disturbance of brain energy metabolism in autistic patients. Recent studies confirmed the previously reported high frequency of biochemical markers of mitochondrial dysfunction, namely hyperlactacidemia and increased lactate/pyruvate ratio, in a significant fraction of 210 autistic patients. (J Autism Dev Disord, 2006. 36:1137) Although rare, Mecp2 mutations can produce autistic features and the mouse model has significant mitochondrial defects. (Mol Cell Biol, 2006. 26: 5033) Additional genetic defects associated with mitochondrial dysfunction include inverted 15q11-13 duplication (Complex III defect) (Ann Neurol, 2003,53,801), A3243G mutation (mitochondrial transfer RNALeucine(UUR) gene, mtDNA depletion(J Pediatr, 2004,144,81), G8363A mutation (mitochondrial transfer RNALysine gene. (J Child Neurol, 2000,15,357).

DESIGN/METHODS: Retrospective analysis of 37 children with autistic spectrum disorders. Clinical, biochemical, metabolic, and genetic data is assessed.

RESULTS: Twenty four children (65%) had skeletal muscle OXPHOS defects: Complex I (16), Complex I and Complex III (5), Complex III (1), Complex I and Complex IV (2). Thirteen (35%) had normal skeletal muscle OXPHOS enzyme activities for Complexes I-IV. Clinical, metabolic, protein chemistry, and sequencing of coding regions of the mitochondrial DNA will be reported.

CONCLUSIONS/RELEVANCE: Most children with autistic spectrum disorders do not have recognizable abnormalities on a broad range of imaging, metabolic and genetic studies. However, a subset of patients do harbor significant defects in oxidative phosphorylation function. Complex I abnormalities are the most frequently encountered defect. Recognition of these children is important for understanding how genes that produce autistic spectrum disorders impact mitochondrial function. Supported by: Horizon Molecular Medicine.

Category - Neurogenetics and Gene Therapy SubCategory – Other Sunday, April 13, 2008 2:45 PM

Platform Session: Integrated Neuroscience: Autism (2:00 PM-3:15 PM) Annual Meeting American Academy of Neurology"