If the mutant gene responsible for it malfunctions , the unassimilated phenylalanine accumulates in the blood and is excreted in large quantities in the urine . यदि रूटायरोसिन उत्पन्न रकने वाला जीन अपना कार्य ठीक से नहीं करता तो खून में अस्वांगीकृत फेनिल एलानिन जमा हो जाता है तथा मूत्र के साथ बड़ी मात्रा में उत्सर्जित होता है .
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