Subject: Abnormalities of Mitochondrial Metabolism in
Children with Pervasive Developmental Disorder.
This is new to me!
Abnormalities of Mitochondrial Metabolism in Children with Pervasive Developmental Disorder.
Richard I. Kelley1,2 Andrew W. Zimmerman,2,3 and Marvin Natowicz.4
1Kennedy Krieger Institute and Departments of 2Pediatrics and 3Neurology, Johns Hopkins University, Baltimore, MD, and 4Department of Neurology, Cleveland Clinic Foundation, Cleveland, OH.
Although developmental delay is a common character
istic of children with disorders of mitochondrial metabolism, classical autism, Asperger syndrome,
and pervasive developmental disorder (PDD) have not commonly been associated with mitochondrial diseases. Because our institutions serve a large number of children with developmental disabilities, we have diagnosed a number of metabolic diseases among children with autistic spectrum disorders, including disorders of organic acid, sterol, and mitochondrial metabolism. Among these, mitochondrial disease has been the most common diagnosis and may account for as many as 20% of autistic children. The most common autism phenotype we find associated with mitochondrial disease is nonspecific PDD with language and cognitive regression in the second year, with more variable neuromotor abnormalities. Metabolic abnormalities by routine testing are subtle, but include mildly increased blood levels of lact
ate and alanine and increased urinary excretion of 2-ketoglutarate. Patients who have had
muscle biopsies have all have marked deficiencies of complex I, sometimes associated with a deficiency of complex III and structural abnormalities of mitochondria. An unexpected finding was that, among several multiplex families, biochemical and clinical makers of mitochondrial disease segregated in an autosomal dominant manner, suggesting a dominant negative nuclear mutation affecting complex I activity. When identified below the age of three years, affected children often respond to therapy designed to augment complex I activity and limit fasting. We speculate that, like the basal ganglia, areas of the brain important in the development of language and personal social interaction are especially vulnerable in the first two to
three years to injury mediated by defects of mitochondrial energy metabolism, and that early evaluation of autistic children for these more subtle mitochondrial disturbances may rescue some of them from more severe brain injury and lifelong disability.
Irma Sheila and her X MEN
Single & Proud mom PC (premutation carrier) to Amir (4 1/2 years old) Autistic & Fragile X Full Mutation (mosaic)
& Ryan Yadiel (2 1/2 years old) Autistic & Fragile X Full and Premutation (mosaic) Both georgeous!
Caribbean Island of Puerto Rico, USA
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