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hyperphenylalaninemia
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
SPR
PAH
GCH1
PCBD1
PTS
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
pteridine-containing compound metabolic process
polyol metabolic process
neurotransmitter metabolic process
MODULE_78
aromatic amino acid family metabolic process
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Autosomal recessive hereditary disorder
Mouse Phenotypes - Enzymopathy
OMIM - Congenital disorder
OMIM - Disorder of amino acid metabolism
OMIM - Dystonia
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Literature
Most Relevant Literature
Neuropsychological Disorders in Moderate Hyperphenylalaninemia: Literature Review.
Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed.
The Utility of Genomic Testing for Hyperphenylalaninemia.
A Case of DNAJC12-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes f…
Guide for diagnosis and treatment of hyperphenylalaninemia.
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Clinical Trials
Most Relevant Clinical Trials
Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia
Phenylketonuria and Hyperphenylalaninemia Nutrition Study
Phenylalanine-free Diet for Patients With Secondary Hyperphenylalaninemia in ICU
Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy
Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninem…
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