saccharopinuria
MONDO:0010005Mondo
Findings
No curated finding names saccharopinuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.
Definition from the Mondo Disease Ontology (MONDO:0010005), read 2026-09-29. CC BY 4.0.
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating enzyme concentrationHPOHP:0011021
- Very frequent (80% to 99% of cases)
- HyperlysinemiaHPOHP:0002161
- Very frequent (80% to 99% of cases)
- Growth abnormalityHPOHP:0001507
- Frequent (30% to 79% of cases)
- HyperlysinuriaHPOHP:0003297
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- CitrullinuriaHPOHP:0032397
- Occasional (5% to 29% of cases)
- Cognitive impairmentHPOHP:0100543
- Occasional (5% to 29% of cases)
- CystinuriaHPOHP:0003131
- Occasional (5% to 29% of cases)
- Distal sensory impairmentHPOHP:0002936
- Occasional (5% to 29% of cases)
- Elevated circulating citrulline concentrationHPOHP:0011966
- Occasional (5% to 29% of cases)
- Gait ataxiaHPOHP:0002066
- Occasional (5% to 29% of cases)
- HyperammonemiaHPOHP:0001987
- Occasional (5% to 29% of cases)
Show the remaining 7
- HypercystinemiaHPOHP:0500151
- Occasional (5% to 29% of cases)
- Mental deteriorationHPOHP:0001268
- Occasional (5% to 29% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Occasional (5% to 29% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
- Spastic diplegiaHPOHP:0001264
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: saccharopinuria
- Also called
- hyperlysinemia type IIsaccharopine dehydrogenase deficiency