Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
6-Pyruvoyltetrahydropterin synthase deficiency
Introduction
6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency.
References
References
- Thony B, Blau N (1997). “Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes”. Hum Mutat. 10 (1): 11–20. PMID 9222755