Disease & disorder

glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

MONDO:0013047

A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern.

Clinical trials0
Recruiting0
Drug concepts studied0
Synonyms14

Disease research snapshot

No clinical trials have been linked to this exact normalized concept in the current published dataset. This is a coverage limitation, not evidence that the condition or medicine has never been studied. Try a synonym or browse registry-reported labels.

Numbers are derived from CureCurrent's current ClinicalTrials.gov projection and conservative MONDO/RxNorm mappings. See sources, counting rules and limitations and verify eligibility or clinical findings with the original study record.

Research intelligence

Directly mapped studies only · unique clinical trials

Current registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.

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Background context

glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.

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How to interpret this record

CureCurrent links normalized diseases, medicines, registry study labels, sponsors and research sites. A link is not the same as a finding of clinical effectiveness. Our research guides explain how to compare studies, decode RxNorm identities, and avoid over-interpreting site and trial counts. See the published database coverage for mapping completeness.

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.