← Back to Conditions

Phenylketonuria

disorder
SNOMED 190687004CUI C0031485

Overview

Phenylketonuria is a disorder. There are currently 3 actively recruiting clinical trials.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Treatments & Interventions

Tetrahydrobiopterin

substance

Sapropterin

substance

Sapropterin dihydrochloride

substance

Pegvaliase

substance

Clinical Trials

10
Total Trials
3
Recruiting
4
With Results

Recent Trials

Rapid Drug Desensitization Study in Adults Experiencing Hypersensitivity Reactions to Palynziq

NCT06780332Phase 4Recruiting10 enrolled

Effect of L-carnitine Supplementation on Phenylalanine and Brain-derived Neurotrophic Factor Levels in Infants and Children With Phenylketonuria

NCT06901323Phase 4Active Not Recruiting176 enrolled

Evaluation of PKU UP

NCT05995717N/AActive Not Recruiting16 enrolled

Phenylalanine and Its Impact on Cognition

NCT03788343Phase 4Completed90 enrolled

Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period

NCT01082328Phase 4Completed59 enrolled
View all 10 trials on ClinicalTrials.gov

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Increased level of phenylalanine in urine
Very frequent (80-99%)HP:0032351
Abnormality of the cerebral white matter
Frequent (30-79%)HP:0002500
Behavioral changes
Frequent (30-79%)HP:0000708
Decreased size of cranium
Frequent (30-79%)HP:0000252
Dermatitis
Frequent (30-79%)HP:0000964
Electroencephalogram abnormal
Frequent (30-79%)HP:0002353
Epilepsy
Frequent (30-79%)HP:0001250
Growth deficiency
Frequent (30-79%)HP:0001510
Hyperphenylalaninemia
Frequent (30-79%)HP:0004923
Hypopigmentation of the skin
Frequent (30-79%)HP:0001010
Mental and motor retardation
Frequent (30-79%)HP:0001263
Mental retardation, severe
Frequent (30-79%)HP:0010864
Musty odor
Frequent (30-79%)HP:0410021
Osteopenia
Frequent (30-79%)HP:0000938
Specific learning disability
Frequent (30-79%)HP:0001328
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Ataxia
Occasional (5-29%)HP:0001251
Cortical blindness
Occasional (5-29%)HP:0100704
Depression
Occasional (5-29%)HP:0000716
Encephalopathy
Occasional (5-29%)HP:0001298
Excessive, persistent worry and fear
Occasional (5-29%)HP:0000739
Poor attention span
Occasional (5-29%)HP:0000736
Progressive dementia
Occasional (5-29%)HP:0000726
Spasticity of lower limb
Occasional (5-29%)HP:0002061
Tremor
Occasional (5-29%)HP:0001337

Related Conditions

Classical phenylketonuria(child)
Inborn error of metabolism(parent)
Hyperphenylalaninemia(parent)
Enzymopathy(parent)
Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT
190687004
UMLS CUI
C0031485
Fully Specified Name
Phenylketonuria (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
25
Known Treatments
4
Clinical Trials
10
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.