Dysautonomia in Autism Spectrum Disorder: Case Reports of a Family with Review of the Literature

  • Lonsdale D
  • Shamberger R
  • Obrenovich M
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Abstract

Case histories of a mother and her two children are reported. The mother was a recovered alcoholic. She and her two children, both of whom had symptoms that are typical of autistic spectrum disorder, had dysautonomia. All had intermittently abnormal erythrocyte transketolase studies indicating abnormal thiamine pyrophosphate homeostasis. Both children had unusual concentrations of urinary arsenic. All had symptomatic improvement with diet restriction and supplementary vitamin therapy but quickly relapsed after ingestion of sugar, milk, or wheat. The stress of a heavy metal burden, superimposed on existing genetic or epigenetic risk factors, may be important in the etiology of autism spectrum disorder when in combination. Dysautonomia has been associated with several diseases, including autism, without a common etiology. It is hypothesized that oxidative stress results in loss of cellular energy and causes retardation of hard wiring of the brain in infancy, affecting limbic system control of the autonomic nervous system.

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  • Figure 1: Transketolase requires TPP and magnesium as cofactors. Although the enzyme occurs twice in the hexose-monophosphate shunt, the laboratory test is for the one shown as the TPPE effect. Transketolase TK, pyruvate dehydrogenase (PDH), alpha-ketoglutarate dehydrogenase (α-KGDH) Enzymes that all require thiamine (vitamin B1/TTFD) as a cofactor in order to function in carbohydrate metabolism. glyceraldehyde 3-phosphate and fructose-6-phosphate. There are four known natural thiamine phosphate derivatives: thiamine monophosphate (TMP), thiamine diphosphate (TDP) or thiamine pyrophosphate (TPP), thiamine triphosphate (TTP), and the recently discovered adenosine thiamine triphosphate (AThTP). Thiamine pyrophosphate (TPP), also known as thiamine diphosphate (TDP), and cocarboxylase is a coenzyme for several enzymes that catalyze the dehydrogenation (decarboxylation and subsequent conjugation to Coenzyme A) of alpha-keto acids. Thiamine pyrophosphate effect really reflects the saturation status of transketolase with coenzyme.
  • Table 1: Changes in transketolase activity (TKA), thiamine pyrophosphate effect (TPPE), and urinary heavy metal for the three family members. Normal TKA 42–86mU/L/min. Acceptable range for TPPE 0–18%. Acceptable range for urinary arsenic 0–45mg/G. Cr, for mercury, only traces.

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APA

Lonsdale, D., Shamberger, R. J., & Obrenovich, M. E. (2011). Dysautonomia in Autism Spectrum Disorder: Case Reports of a Family with Review of the Literature. Autism Research and Treatment, 2011, 1–7. https://doi.org/10.1155/2011/129795

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