17. Phenylketonuria (PKU)
1 - Toxic metabolites from an aberrant liver enzyme
2 - Maternal PKU
Autism in individuals with phenylketonuria PKU) has long been recognized. Visible
impairment of myelination is the major neuropathological finding in PKU. But Williams
et al. (1980) included a case of PKU in an investigation of neuropathology in autism
and found the only barely visible sign to be reduced dendritic spines on pyramidal
neurons. Mental retardation has occurred in children of mothers with PKU whose
phenylalanine intake was not well controlled during pregnancy. Prenatal exposure to
high levels of phenylalanine and its toxic metabolites appears to have an effect more
like that of prenatal exposure to alcohol.
Neurologic
Impairments
References
Notes
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