Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated urinary saccharopine level
Always present (100%)HP:6000283
Abnormality of circulating enzyme level
Very frequent (80-99%)HP:0011021
Hyperlysinemia
Very frequent (80-99%)HP:0002161
Decreased body height
Frequent (30-79%)HP:0004322
Growth abnormality
Frequent (30-79%)HP:0001507
Lysinuria
Frequent (30-79%)HP:0003297
Citrullinuria
Occasional (5-29%)HP:0032397
Elevated plasma citrulline
Occasional (5-29%)HP:0011966
High blood ammonia levels
Occasional (5-29%)HP:0001987
Hypercystinemia
Occasional (5-29%)HP:0500151
Inability to coordinate movements when walking
Occasional (5-29%)HP:0002066
Intellectual deterioration
Occasional (5-29%)HP:0001268
Intellectual impairment
Occasional (5-29%)HP:0100543
Loss of distal sensation
Occasional (5-29%)HP:0002936
Mental retardation, mild
Occasional (5-29%)HP:0001256
Neurodevelopmental delay
Occasional (5-29%)HP:0012758
Nitroprusside-cyanide urine test positive
Occasional (5-29%)HP:0003131
Seizures
Occasional (5-29%)HP:0001250
Spastic diparesis
Occasional (5-29%)HP:0001264
Tremor
Occasional (5-29%)HP:0001337
Electroencephalogram abnormal
HP:0002353
Elevated circulating saccharopine concentration
HP:0034026
Elevated histidine in urine
HP:0002927
Low intelligence
HP:0001249
Quick Facts
- SNOMED CT
- 111397004
- UMLS CUI
- C0268556
- Fully Specified Name
- Saccharopinuria (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.