A New Variant of Biopterin Deficiency

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Abstract
To the Editor: In 1987 Dhondt et al. reported a possibly new variant of impaired biopterin synthesis.* The disorder was detected in an infant 26 days of age through a neonatal screening program because of an elevated blood phenylalanine level and a urinary pattern indicative of a biopterin synthetase deficiency. In addition, the authors observed an unidentified peak adjacent to biopterin in the urinary pterin pattern on high-performance liquid chromatography. With time the defect resolved and the clinical presentation became normal, but the unidentified component in the urine persisted. Restriction of phenylalanine intake was the only treatment.Recently, we identified . . .

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