Subcortical band heterotopia in a patient with phenylketonuria: co-existence or consequence?

Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by deficient activity of phenylalanine hydroxylase, an enzyme that catalyzes the conversion of phenylalanine (PHE) to tyrosine. Tyrosine is further converted into catecholamines, melanin and thyroid hormones. Without dietary restriction, PHE accumulates in blood and tissue and causes secondary deficit of the above-mentioned metabolites, commonly leading to cerebral white matter (WM) abnormalities, microcephaly, neurological and cognitive deficits, behavioral problems, and epilepsy.
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Tags: Clinical letter Source Type: research