Glycogen Storage Disease XII

mutation in ALDOA

Also Known As:

ALDOA Deficiency; Aldolase A Deficiency; Aldolase Deficiency, Red Cell; GSD XII; GSD12; Red Cell Aldolase Deficiency

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - Glycogen Storage Disease: 1461
        Glycogen Storage Disease XII: 6
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - Glycogen Storage Disease: 1461
        Glycogen Storage Disease XII: 6

Related Diseases

1.	Hemolytic Anemia
2.	Rhabdomyolysis
3.	Metabolic Diseases (Metabolic Disease)
4.	Glycogen Storage Disease (Glycogenosis)

Experts

1.	Habarou, Florence: 2 articles (07/2015 - 11/2014)
2.	Hamel, Yamina: 2 articles (07/2015 - 11/2014)
3.	Mamoune, Asmaa: 2 articles (07/2015 - 11/2014)
4.	Ottolenghi, Chris: 2 articles (07/2015 - 11/2014)
5.	de Lonlay, Pascale: 2 articles (07/2015 - 11/2014)
6.	Campana, Carmen: 1 article (03/2022)
7.	Catassi, Carlo: 1 article (03/2022)
8.	Dionisi-Vici, Carlo: 1 article (03/2022)
9.	Maiorana, Arianna: 1 article (03/2022)
10.	Pjetraj, Dorina: 1 article (03/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Glycogen Storage Disease XII:

1.	Proteins (Proteins, Gene)FDA Link 07/01/2015 - "To illustrate these points in the context of energy metabolism, protein thermolability and the potential benefits of arginine therapy, we focus on a rare cause of rhabdomyolysis, aldolase A deficiency. " 11/01/2014 - "The aldolase A deficiency was rescued by arginine supplementation in vitro but not by glycerol, betaine or benzylhydantoin, three other known chaperones, suggesting that arginine-mediated rescue operated by a mechanism other than protein chaperoning. "
2.	Fructose-Bisphosphate Aldolase (Aldolase)IBA 12/01/1987 - "Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation." 08/01/1990 - "Aldolase A derived from a hemolytic anemia patient with aldolase A deficiency was shown to have an amino acid substitution of glycine for aspartic acid at the 128th position (Asp-128) in the enzyme [Kishi et al. (1987) Proc. "
3.	Arginine (L-Arginine)FDA Link 07/01/2015 - "To illustrate these points in the context of energy metabolism, protein thermolability and the potential benefits of arginine therapy, we focus on a rare cause of rhabdomyolysis, aldolase A deficiency. " 11/01/2014 - "The aldolase A deficiency was rescued by arginine supplementation in vitro but not by glycerol, betaine or benzylhydantoin, three other known chaperones, suggesting that arginine-mediated rescue operated by a mechanism other than protein chaperoning. "
4.	GlycogenIBA 03/04/2022 - "Glycogen storage disease type XII is a rare metabolic disease resulting from Aldolase A deficiency that causes muscle glycogen accumulation, with crisis of rhabdomyolysis and hemolytic anemia. "
5.	Glycine (Aminoacetic Acid)FDA LinkGeneric 08/01/1990 - "Aldolase A derived from a hemolytic anemia patient with aldolase A deficiency was shown to have an amino acid substitution of glycine for aspartic acid at the 128th position (Asp-128) in the enzyme [Kishi et al. (1987) Proc. "
6.	Glycerol (Glycerine)FDA LinkGeneric 11/01/2014 - "The aldolase A deficiency was rescued by arginine supplementation in vitro but not by glycerol, betaine or benzylhydantoin, three other known chaperones, suggesting that arginine-mediated rescue operated by a mechanism other than protein chaperoning. "
7.	EnzymesIBA 08/01/1990 - "Aldolase A derived from a hemolytic anemia patient with aldolase A deficiency was shown to have an amino acid substitution of glycine for aspartic acid at the 128th position (Asp-128) in the enzyme [Kishi et al. (1987) Proc. "
8.	Betaine (C.B.B.)FDA Link 11/01/2014 - "The aldolase A deficiency was rescued by arginine supplementation in vitro but not by glycerol, betaine or benzylhydantoin, three other known chaperones, suggesting that arginine-mediated rescue operated by a mechanism other than protein chaperoning. "
9.	Aspartic Acid (Aspartate)FDA Link 08/01/1990 - "Aldolase A derived from a hemolytic anemia patient with aldolase A deficiency was shown to have an amino acid substitution of glycine for aspartic acid at the 128th position (Asp-128) in the enzyme [Kishi et al. (1987) Proc. "

Therapies and Procedures

1.	Therapeutics 07/01/2015 - "To illustrate these points in the context of energy metabolism, protein thermolability and the potential benefits of arginine therapy, we focus on a rare cause of rhabdomyolysis, aldolase A deficiency. "
2.	Anesthesia 05/01/1993 - "[Anesthesia for a patient with red cell aldolase deficiency]."