" /> Malignant hyperphenylalaninaemia due to tetrahydrobiopterin deficiency - CISMeF





Preferred Label : Malignant hyperphenylalaninaemia due to tetrahydrobiopterin deficiency;

ICD-11 definition : This condition is characterized by mildly or strongly elevated levels of the amino acid phenylalanine in the blood. This diagnosis is due to a rare metabolic disorder that increases the blood levels of phenylalanine.;

ICD-11 synonym : Malignant hyperphenylalaninaemia due to BH4 deficiency;

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This condition is characterized by mildly or strongly elevated levels of the amino acid phenylalanine in the blood. This diagnosis is due to a rare metabolic disorder that increases the blood levels of phenylalanine.

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29/07/2025


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