Classic Phenylketonuria

Alias:
Classical Phenylketonuria
Pah - [phenylalanine Hydroxylase] Deficiency
Typical Pku - [phenylketonuria]
Hyperphenylalaninaemia Type I
Oligophrenia Phenylpyruvica
Phenylpyruvic Oligophrenia
Imbecilitus Phenylpyruvica
Phenylketonuria Classical
Typical Phenylketonuria
Phenylpyruvic Aciduria
Folling Disease
Classic Pku
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Classic Phenylketonuria, also known as classical phenylketonuria, is related to hyperphenylalaninemia, bh4-deficient, a and phenylketonuria, and has symptoms including dry skin An important gene associated with Classic Phenylketonuria is PAH (Phenylalanine Hydroxylase), and among its related pathways/superpathways are Metabolism and tyrosine degradation. The drugs D-Phenylalanine and Vitamins have been mentioned in the context of this disorder. Affiliated tissues include skin and brain, and related phenotypes are global developmental delay and intellectual disability, severe
Related ID:
ICD11:2084504393

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/100000
3
23
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Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Status
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No data available

Disease Model

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MGI
Related Gene
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Publications
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References Literature

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