Phenylketonuria (PKU)

Phenylketonuria(来自ICD-11)

别称:

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

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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

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