Disease Relevance
HPPD can be linked to one of the oldest known inherited metabolic disorders known as alkaptonuria, which is caused by low levels of homogentisate in the blood stream. HPPD is also directly linked to Type III tyrosinemia When the active HPPD enzyme concentration is low in the human body, it results in high levels of tyrosine concentration in the blood, which can cause mild mental retardation at birth, and degradation in vision as a patient grows older.
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