Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

Orpha code: 284426OMIM code: 612933

Definition

A rare glycogen storage disease characterized by easy fatigue, exertional myalgia, painful muscle stiffness, and cramps, with or without myoglobinuria. Pustular psoriasis-like eruptions with antecedent annular scaly plaques may be observed in some patients. In affected women, pregnancy may be complicated by abdominal pain and dystocia.

Disease data
Classification

Clinical subtype

Synonyms
GSD due to lactate dehydrogenase M-subunit deficiency
Choroba spichrzania glikogenu typu 11
Glikogenoza typu 11
Glikogenoza z powodu niedoboru podjednostki M dehydrogenazy mleczanowej
GSD typu 11
GSD z powodu niedoboru podjednostki M dehydrogenazy mleczanowej
Niedobór dehydrogenazy mleczanowej A
Niedobór podjednostki LDH-M
Glycogenosis due to lactate dehydrogenase M-subunit deficiency
LDH-M subunit deficiency
Lactate dehydrogenase A deficiency
ORPHA code
284426
OMIM code
612933
ICD10 code
E74.0
ICD11 code
-

No additional description.

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