6-Pyruvoyl-tetrahydrobiopterin synthase deficiency

disorder

SNOMED 237914002CUI C0878676

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Hyperphenylalaninemia

Always present (100%)HP:0004923

Appendicular hypertonia

Frequent (30-79%)HP:0002509

Arc de cercle

Frequent (30-79%)HP:0002179

Birth weight less than 10th percentile

Frequent (30-79%)HP:0001518

Decreased CSF 5-HIAA

Frequent (30-79%)HP:0025455

Decreased CSF homovanillic acid concentration

Frequent (30-79%)HP:0003785

Feeding difficulties

Frequent (30-79%)HP:0011968

Muscular hypotonia

Frequent (30-79%)HP:0001252

Ataxia

Occasional (5-29%)HP:0001251

Choreatic disease

Occasional (5-29%)HP:0002072

Choreoathetoid movements

Occasional (5-29%)HP:0001266

Clonus

Occasional (5-29%)HP:0002169

Deglutition disorder

Occasional (5-29%)HP:0002015

Delay in head control

Occasional (5-29%)HP:0002421

Depression

Occasional (5-29%)HP:0000716

Dull intelligence

Occasional (5-29%)HP:0001249

Dystonic disease

Occasional (5-29%)HP:0001332

Extrapyramidal syndrome

Occasional (5-29%)HP:0002071

Eyelid ptosis

Occasional (5-29%)HP:0000508

Falls

Occasional (5-29%)HP:0002527

Hyperkinetic movements

Occasional (5-29%)HP:0002487

Hypertonia

Occasional (5-29%)HP:0001276

Hypsarrhythmia by EEG

Occasional (5-29%)HP:0002521

Increased reflexes

Occasional (5-29%)HP:0001347

Jerking

Occasional (5-29%)HP:0001336

Mental and motor retardation

Occasional (5-29%)HP:0001263

Muscle rigidity

Occasional (5-29%)HP:0002063

No development of motor milestones

Occasional (5-29%)HP:0001270

Oculogyric crisis

Occasional (5-29%)HP:0010553

Oversalivation

Occasional (5-29%)HP:0003781

Related Conditions

Tetrahydrobiopterin synthesis defect(parent)

Quick Facts

SNOMED CT: 237914002
UMLS CUI: C0878676
Fully Specified Name: 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.