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Mild non-PKU hyperphenylalanemia

MedGen UID:: 394818
•Concept ID:: C2678416
•: Disease or Syndrome

Synonyms:	HPA, NON-PKU MILD; HYPERPHENYLALANINEMIA, NON-PKU MILD

OMIM®:	261600; 612349

Professional guidelines

Curated

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated Phenylalanine, Phenylalanine hydroxylase deficiency (PAH), 2022

American College of Medical Genetics and Genomics, Algorithm, PAH deficiency: Elevated Phenylalanine, 2022

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Clinical resources

ClinicalTrials.gov

Practice guidelines

Curated

ACMG ACT, 2022
American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated Phenylalanine, Phenylalanine hydroxylase deficiency (PAH), 2022
ACMG Algorithm, 2022
American College of Medical Genetics and Genomics, Algorithm, PAH deficiency: Elevated Phenylalanine, 2022

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Mild non-PKU hyperphenylalanemia
Mild non-PKU hyperphenylalanemia

MedGen
C0272324[trait identifier] AND "OMIM"[submitter] (2)
ClinVar
C2678416[conceptid] (1)
MedGen
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MedGen
C0272324[conceptid] (1)
MedGen

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