Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- Synonyms
- Lactate dehydrogenase B deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (7 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Reduced circulating lactate dehydrogenase concentration
Reduced circulating lactate dehydrogenase concentration
- MedGen UID: 1375896
- Concept ID: C4477051
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced circulating lactate dehydrogenase concentration
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