Glycogen storage disease

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Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

ORPHA:284435Clinical subtype

Also called GSD due to lactate dehydrogenase H-subunit deficiency · Glycogenosis due to lactate dehydrogenase H-subunit deficiency · LDH-H subunit deficiency · Lactate dehydrogenase B deficiency

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Age of onset
Adult
Inheritance
Autosomal dominant, Autosomal recessive
Classified as
Clinical subtype

Gene

LDHBDisease-causing germline mutation(s)

ICD-10 codes

E74.0filed under a broader ICD-10 category — shared with 36 other rare diseases

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

GARD 3161MESH C563641MONDO 0013587OMIM 614128UMLS C3279904

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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