Glycogen storage disease due to lactate dehydrogenase deficiency

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Synonyms: GSD due to lactate dehydrogenase deficiency | Glycogenosis due to lactate dehydrogenase deficiency | LDH deficiency

A rare genetic glycogen storage disease characterized by either lactate dehydrogenase (LDH) M- or H-subunit deficiency. Main features of LDH M-subunit deficiency are exertional fatigue and muscle pain potentially accompanied by myoglobinuria. Some patients may develop pustular psoriasis-like skin lesions. Complications of pregnancy such as frequent abdominal pains and increased uterine tone with a risk of dystocia have also been described. LDH H-subunit deficiency manifests with low serum LDH activity of unclear clinical relevance.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Glycogen storage disease due to lactate dehydrogenase deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

association for glycogen storage disease

The Association for Glycogen Storage Disease (AGSD) is a patient advocacy organization dedicated to protecting and promoting the best interest of all persons affected by the glycogen storage disease. • AGSD is committed to the identification, treatment, and cure of glycogen storage disease through programs of education, advocacy, research, and patient services.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.