Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Hyperphenylalaninemia
Very frequent (80-99%)HP:0004923
Abnormal circulating biopterin concentration
Frequent (30-79%)HP:0040210
Abnormal circulating neopterin concentration
Frequent (30-79%)HP:0040206
Abnormal urinary nitrogen compound level
Frequent (30-79%)HP:0040416
Behavioral changes
Frequent (30-79%)HP:0000708
Decreased CSF homovanillic acid concentration
Frequent (30-79%)HP:0003785
Muscular hypotonia
Frequent (30-79%)HP:0001252
Neurodevelopmental delay
Frequent (30-79%)HP:0012758
Oversalivation
Frequent (30-79%)HP:0003781
Basal ganglion calcification
Occasional (5-29%)HP:0002135
Decreased circulating catecholamine concentration
Occasional (5-29%)HP:6000482
Decreased size of cranium
Occasional (5-29%)HP:0000252
Delay in head control
Occasional (5-29%)HP:0002421
Dystonic disease
Occasional (5-29%)HP:0001332
Elevated urinary 7-biopterin level
Occasional (5-29%)HP:0033594
Epilepsy
Occasional (5-29%)HP:0001250
Hypertonia
Occasional (5-29%)HP:0001276
Hypomagnesemia
Occasional (5-29%)HP:0002917
Intellectual impairment
Occasional (5-29%)HP:0100543
Maturity onset diabetes of the young
Occasional (5-29%)HP:0004904
Oculogyric crisis
Occasional (5-29%)HP:0010553
Parkinsonian disease
Occasional (5-29%)HP:0001300
Speech and language difficulties
Occasional (5-29%)HP:0000750
Trouble sleeping
Occasional (5-29%)HP:0002360
Related Conditions
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency(child)
Pterin-4-carbinolamine dehydratase deficiency(child)
Dihydropteridine reductase deficiency(child)
GTP cyclohydrolase I deficiency(child)
Disorder of tetrahydrobiopterin metabolism(parent)
Hyperphenylalaninemia(parent)
Recessive hereditary disorder (autosomal)(parent)
Quick Facts
- SNOMED CT
- 68724006
- UMLS CUI
- C0751436
- Fully Specified Name
- Tetrahydrobiopterin synthesis defect (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.