Mitochondrial Dysfunction in Patients With Hypotonia, Epilepsy, Autism, and Developmental Delay: HEADD Syndrome

doi:10.1177/088307380201700607

Article

Mitochondrial Dysfunction in Patients With Hypotonia, Epilepsy, Autism, and Developmental Delay: HEADD Syndrome

1 Jun 2002

Abstract excerpt

A group of 12 children clinically presenting with hypotonia, intractable epilepsy, autism, and developmental delay, who did not fall into previously described categories of mitochondrial encephalomyopathy, were evaluated for mitochondrial respiratory enzyme activity levels, mitochondrial DNA, and mitochondrial structural abnormalities. Reduced levels in specific respiratory activities were found solely in enzymes...

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