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Start free with EleplanGenetic recurrent myoglobinuria
ORPHA:99845Disease
What it is
Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.
Key facts
- Age of onset
- Childhood
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Classified as
- Disease
Signs and symptoms
Common30–79%
11- Abnormality of glycolipid metabolism
- Elevated circulating aldolase concentration
- Elevated circulating hepatic transaminase concentration
- Exercise-induced myalgia
- Exercise-induced myoglobinuria
- Increased circulating lactate dehydrogenase concentration
- Myositis
- Reduced tendon reflexes
- Renal insufficiency
- Type 2 muscle fiber atrophy
- Viral infection-induced rhabdomyolysis
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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