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  • Journal
    Digital Access ScienceDirect v. 1-5, 1970-74.
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    v. 2, [3], 4-5, 1971, [1972], 1973-74.
    3
  • Article
    Gröbe H, Bartholome K, Milstien S, Kaufman S.
    Eur J Pediatr. 1978 Sep 08;129(2):93-8.
    Two siblings with increased levels of serum phenylalanine were detected by newborn screening. The older sibling deteriorated neurologically and mentally, despite early dietary control, and died at the age of 6 1/2 years. In the younger sibling phenylalanine hydroxylase activity in liver tissue was normal. Further investigations revealed increased concentrations of biopterin derivatives in the blood, a low excretion of 5-hydroxyindole acetic acid in the urine, and a dihydropteridine reductase deficiency as the cause of hyperphenylalaninaemia. The parents of the siblings showed 50% of the normal dihydropteridine reductase activity in their fibroblasts grown in culture. Neurotransmitter therapy was started in the second child at the age of 6 months and this was followed by distinct neurological and mental improvement.
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