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encephalopathy due to beta-mercaptolactate-cysteine disulfiduria

MeSH: C563085ORPHA: 1035

Contents

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

Overview

human disease

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 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria, sourced from HPO and Orphanet clinical annotations.

Posteriorly rotated earsJoint hypermobilityHigh foreheadIntellectual disabilitySeizureShort statureHigh palateConvex nasal ridgeAnteverted naresStrabismusDownslanted palpebral fissuresDry skinArachnodactylyHypotoniaSandal gapFrontal bossingEEG abnormalityGenu valgumMicromeliaHypoplasia of the ear cartilageAbnormality of the ureterObesityUmbilical herniaAtrial septal defect

Classification & Codes

MeSH Code

C563085

Orphanet Code

ORPHA:1035
encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
MeSHC563085
OrphanetORPHA:1035
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO