WebJun 11, 2024 · Lactate dehydrogenase A deficiency (GSD type XI) Aldolase A deficiency (GSD type XII) Beta-enolase deficiency (GSD type XIII) Phosphoglucomutase-1 … WebGlycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells. There are four types of GSDVII. They are differentiated by their signs and symptoms and the age at which symptoms ...

KEGG DISEASE: Glycogen storage disease type XI - Genome

WebJun 20, 2024 · Compared to GSD type I and III, which are characterized by a more severe impact on metabolic and glycemic homeostasis, GSD type 0, VI, IX and XI are usually … WebLactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency. People with lactate dehydrogenase-A ... bowling guildford spectrum

Glycogen storage diseases with liver involvement: a …

WebDescription. Glycogen storage disease type XI (GSD-XI) is an autosomal recessive disorder of glycogen metabolism. GSD-XI is caused by mutations in the LDHA gene, … WebGSD XI; Glycogen storage disease XI; Lactate dehydrogenase deficiency type A Modes of inheritance Autosomal recessive inheritance (Orphanet) Summary A rare glycogen … WebSummary. Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. gummy bears used to be called