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hereditary myopathy with lactic acidosis due to ISCU deficiency

MeSH: C564972ORPHA: 43115

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Classification & Codes

Overview

Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase

Available Treatments (0)

No treatments linked yet

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

Classification & Codes

MeSH Code

C564972

Orphanet Code

ORPHA:43115
hereditary myopathy with lactic acidosis due to ISCU deficiency
MeSHC564972
OrphanetORPHA:43115
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO