A sibling case of hyperphenylalaninemia due to a deficiency of dihydropteridine reductase: Biochemical and pathological findings.

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Abstract
Three siblings with hyperphenylalaninemia who showed convulsions and severe mental retardation despite dietary control of blood phenylalanine were described. The cultured skin fibroblasts from 2 patients revealed a markedly low activity of dihydropteridine reductase. These patients showed low levels of serum folate and of 5-hydroxyindoleacetic acid and homovanillic acid in the CSF. The postmortem examination on 1 of the siblings exhibited the dysmyelination in the cerebrum and spongy lesions of the white matter in the cerebellum, pons, medulla oblongata and spinal cord. Many minute foci of calcification were found in the cerebrum, which were located in the perivascular space of the small blood vessels. Calcification was also observed on CT [computerized tomographic] scanning of the brain in the 2 living siblings.

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