Developmental regression and mitochondrial dysfunction in a child with autism
Developmental regression and mitochondrial dysfunction in a child with autism
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DOI：
10.1177/08830738060210021401
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发表时间：
2006-02-01
影响因子：
1.9
通讯作者：
Zimmerman, Andrew W.
中科院分区：
文献类型：
--
作者：
Poling, Jon S.;Frye, Richard E.;Zimmerman, Andrew W.
Autistic spectrum disorders can be associated with mitochondrial dysfunction. We present a singleton case of developmental regression and oxidative phosphorylation disorder in a 19-month-old girl. Subtle abnormalities in the serum creatine kinase level, aspartate aminotransferase, and serum bicarbonate led us to perform a muscle biopsy, which showed type I myofiber atrophy, increased lipid content, and reduced cytochrome c oxidase activity. There were marked reductions in enzymatic activities for complex I and III. Complex IV (cytochrome c oxidase) activity was near the 5% confidence level. To determine the frequency of routine laboratory abnormalities in similar patients, we performed a retrospective study including 159 patients with autism (Diagnostic and Statistical Manual of Mental Disorders-Nand Childhood Autism Rating Scale) not previously diagnosed with metabolic disorders and 94 age-matched controls with other neurologic disorders. Aspartate aminotransferase was elevated in 38% of patients with autism compared with 15% of controls (P
