Autistic Disorder With Complex Iv Over-Activity Case Study

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Autistic disorder with complex IV over-activity: A new mitochondrial syndrome
Part I - Goal: Comprehension
Summary
For a very long time, many scholars have associated mitochondrial disease with substantial decreases in the complex activity of the electron transport chain. Nevertheless, recent studies have linked mitochondrial disorders with multifaceted over activity. In this study by Frye & Naviaux (2011), is the first of its kind to autistic disorder with complex IV over activity. Frye & Naviaux (2011) sampled five patients with a somewhat very high level of complex IV activity, with autism coupled with regression in development, and whose muscle electron microscopy is abnormal; these patients were tested. The authors found that at
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Additionally, carrying out chromosomal microarray was also significant since it also revealed the presence of pathogenic number changes as well as the possibilities of microdeletion that is considered a risk factor with regards to autism, intellectual disability, seizures, as well as malformations. Similarly, measurement of antibodies in three of the samples was also ideal because it provided information of the level – whether high-positive 0r low-positive – of the antibody which is known to block the folate from binding to folate transporter from the blood to the brain. Finally, carrying out a workup for the metabolic disorders following the guidelines suggest by Rossignol & Frye (2011) was also ideal. This is because it enabled determine the elevation levels of biochemical markers that are known for their contribution to mitochondrial dysfunction. These steps were indeed significant because, as is apparent in literature, they give a vivid comprehension on how reduction in mitochondrial roles define mitochondrial deficiencies.
Article’s Cons
The only are that the authors failed in is in their sample size, as well as sample distribution. First, the sample size of five cases is too small so much so that its findings can hardly be generalized to assert the hypothesis that the authors were testing. It would be ideal if Fryea &

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