Lactate Dehydrogenase a Deficiency malady

NIH Rare Diseases: Lactate dehydrogenase A deficiency is a condition that affects how the body breaks down sugar to use as energy in muscle cells.[GHR]  People with this condition experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people, high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern.³⁰

MalaCards: Lactate Dehydrogenase a Deficiency, also known as lactate dehydrogenase deficiency type a, is related to fanconi-bickel syndrome. An important gene associated with Lactate Dehydrogenase a Deficiency is LDHA (lactate dehydrogenase A). The compounds glyceraldehyde 3-phosphate and pyruvate have been mentioned in the context of this disorder. Affiliated tissues include kidney and skin.

lactate dehydrogenase a deficiency 30 lactate dehydrogenase deficiency type a 30

glycogen storage disease xi 30

Disease types for lactate dehydrogenase deficiency family:

lactate dehydrogenase-b deficiency	lactate dehydrogenase a deficiency
lactate dehydrogenase deficiency type c

Diseases related to lactate dehydrogenase a deficiency by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	fanconi-bickel syndrome	7.5

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to lactate dehydrogenase a deficiency:

²²

Articles related to lactate dehydrogenase a deficiency:

id	Title	Authors	Year	Affiliating Genes
1	Characterization of the oxidative metabolism in lactate dehydrogenase A deficiency. (7549132)	Miyajima H.... Kaneko E.	1995	LDHA
2	Characterization of the glycolysis in lactate dehydrogenase-A deficiency. (7630349)	Miyajima H.... Kaneko E.	1995	LDHA, GPD1
3	Molecular characterization of gene expression in human lactate dehydrogenase-A deficiency. (8327147)	Miyajima H.... Kaneko E.	1993	LDHA

Genes related to lactate dehydrogenase a deficiency according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	LDHA	lactate dehydrogenase A	11.0	Publications
2	GPD1	glycerol-3-phosphate dehydrogenase 1 (soluble)	11.0	Publications

Compounds related to lactate dehydrogenase a deficiency according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	glyceraldehyde 3-phosphate32	9.3	GPD1, LDHA
2	pyruvate32	9.3	LDHA, GPD1
3	nadh32 9 18 9	12.2	GPD1, LDHA
4	nadph32 18	10.2	GPD1, LDHA
5	lactate32	9.1	LDHA, GPD1
6	glucose32	9.1	GPD1, LDHA
7	nitric oxide32 9 18 9	12.0	GPD1, LDHA
8	oxygen32 18	9.8	GPD1, LDHA

Cellular components related to lactate dehydrogenase a deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrion	GO:005739	9.1	LDHA, GPD1