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Mild phenylketonuria
rareA phenylketonuria characterized by untreated blood phenylalanine concentrations of approximately 600-1200 umol/L, intermediate between classic phenylketonuria and mild hyperphenylalaninemia, reflecting greater residual phenylalanine hydroxylase activity.
- Identifiers
- MONDO:0019258 Orphanet:79253
- Part of
- Phenylketonuria
- Also known as
- mild PKU · mPKU · variant phenylketonuria · variant PKU
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