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Phenylketonuria

Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who has poorly treated PKU may have heart…

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Causes
Genetic (autosomal recessive)
Diagnostic method
Newborn screening programs in many countries
Duration
Lifelong
Frequency
~1 in 12,000 newborns
Medication
Sapropterin dihydrochloride, pegvaliase
Onset
At birth

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Overview

Signs and symptoms

Genetics

Pathophysiology

Screening

Treatment

Epidemiology

History

Etymology and pronunciation

Research

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Phenylketonuria

Nodes125
Edges124
Triples52
Avg. degree1.98
Density0.016
Components1

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Phenylketonuria

Top relations

related to history · 16
Phenylketonuria → Before, Buck, Carol, Følling, Følling's, Grew, HPA, In Norway, Ivar Asbjørn Følling, Many, Nobel, Norwegian, Pearl, PKU, Pulitzer Prize-winning, The Child Who Never
related to Classical PKU · 8
Phenylketonuria → Classical PKU, Compared, Currently, HPA, PAH, Phe, PKU, Without
Causes · 1
Phenylketonuria → Genetic (autosomal recessive)
Diagnostic method · 1
Phenylketonuria → Newborn screening programs in many countries
Duration · 1
Phenylketonuria → Lifelong
Frequency · 1
Phenylketonuria → ~1 in 12,000 newborns
Medication · 1
Phenylketonuria → Sapropterin dihydrochloride, pegvaliase
Onset · 1
Phenylketonuria → At birth
Other names · 1
Phenylketonuria → Phenylalanine hydroxylase deficiency, PAH deficiency, Følling disease
Prognosis · 1
Phenylketonuria → Normal health with treatment

Important terminology Word statistics

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Important terminology

pku phenylalanine phe levels diet blood may enzyme pah amino acid disease treatment low birth brain screening people gene tyrosine

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
PhenylketonuriaCausesGenetic (autosomal recessive)1.00infobox
PhenylketonuriaDiagnostic methodNewborn screening programs in many countries1.00infobox
PhenylketonuriaDurationLifelong1.00infobox
PhenylketonuriaFrequency~1 in 12,000 newborns1.00infobox
PhenylketonuriaMedicationSapropterin dihydrochloride, pegvaliase1.00infobox
PhenylketonuriaOnsetAt birth1.00infobox
PhenylketonuriaOther namesPhenylalanine hydroxylase deficiency, PAH deficiency, Følling disease1.00infobox
PhenylketonuriaPrognosisNormal health with treatment1.00infobox
PhenylketonuriaSpecialtyMedical genetics, pediatrics, dietetics1.00infobox
PhenylketonuriaSymptomsWithout treatment: intellectual disability, seizures, hyperactivity, psychiatric problems, musty odor1.00infobox
PhenylketonuriaTreatmentDiet low in foods that contain phenylalanine; special supplements1.00infobox
PhenylketonuriaTypesClassic, variant1.00infobox
Phenylketonuriais ainherited genetic disorder0.90text

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