OrphanDrug
OrphanDrug
Pharma Knowledge Base

Saccharopinuria

MeSH: C537218ORPHA: 3124

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Saccharopinuria, sourced from HPO and Orphanet clinical annotations.

HyperlysinemiaAbnormal circulating enzyme concentrationGrowth abnormalityHyperlysinuriaShort statureSeizureMild intellectual disabilitySpastic diplegiaMental deteriorationTremorHyperammonemiaGait ataxiaDistal sensory impairmentCystinuriaElevated plasma citrullineNeurodevelopmental delayCitrullinuriaCognitive impairmentHypercystinemia

Classification & Codes

MeSH Code

C537218

Orphanet Code

ORPHA:3124
Saccharopinuria
MeSHC537218
OrphanetORPHA:3124
Treatments0 drug(s)
Symptoms on record19 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO