Phenylketonuria (PKU)
Alias:
Phenylalanine Hydroxylase Deficiency
Pku
Pah Deficiency
Hyperphenylalaninemic Embryopathy
Maternal Hyperphenylalaninemia
Phenylketonuric Embryopathy
Maternal Phenylketonuria
Phenylketonurias
Hyperphenylalaninemia, Non-Pku Mild
Phenylketonuria, Maternal
Variant Phenylketonuria
Mild Phenylketonuria
Folling's Disease
Phenylalaninemia
Folling Disease
Maternal Pku
Variant Pku
Mild Pku
Mpku
Phenylalanine Hydroxylase Deficiency Disease
Non-Phenylketonuria Hyperphenylalaninemia
Oligophrenia Phenylpyruvica
Classical Phenylketonuria
Phenylketonuria Maternal
Pku - [phenylketonuria]
Hyperphenylalaninaemia
Hyperphenylalaninemia
Non-Pku Hpa
Hpa
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Phenylketonuria, also known as phenylalanine hydroxylase deficiency, is related to classic phenylketonuria and hyperphenylalaninemia, and has symptoms including back pain, headache and pain. An important gene associated with Phenylketonuria is PAH (Phenylalanine Hydroxylase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Dopamine and Melatonin have been mentioned in the context of this disorder. Affiliated tissues include Liver, heart and skin, and related phenotypes are aminoaciduria and abnormal heart morphology
相关ID:
MESH:D010661
ICD11:444122923
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
1-9/100000
58
767
697
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
Function
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Mutations
No data available
Related Drugs
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CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
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PMID
Journal
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IF
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Comparison
Al agent
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