Template:Inborn errors of carbohydrate metabolism: Difference between revisions

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  | name = Inborn errors of carbohydrate metabolism
  | name = Inborn errors of carbohydrate metabolism
  | title = [[Inborn error of metabolism|Inborn error]] of [[Inborn errors of carbohydrate metabolism|carbohydrate metabolism]]: [[monosaccharide]] metabolism disorders <br/> Including [[glycogen storage disease]]s (GSD)
  | title = [[Inborn error of metabolism|Inborn error]] of [[Inborn errors of carbohydrate metabolism|carbohydrate metabolism]]: [[monosaccharide]] metabolism disorders ([[ICD-10 Chapter IV: Endocrine, nutritional and metabolic diseases#(E73–E74) Carbohydrates|E73–E74]], [[List of ICD-9 codes 240–279: endocrine, nutritional and metabolic diseases, and immunity disorders#Disorders of carbohydrate transport and metabolism|271]]) <br/> Including [[glycogen storage disease]]s (GSD)
  | state = {{{state<includeonly>|autocollapse</includeonly>}}}
  | state = {{{state<includeonly>|autocollapse</includeonly>}}}
  | listclass = hlist
  | listclass = hlist
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* [[Inborn errors of renal tubular transport]] ([[Renal glycosuria]])
* [[Inborn errors of renal tubular transport]] ([[Renal glycosuria]])
* [[Fructose malabsorption]]
* [[Fructose malabsorption]]
* [[GLUT1 deficiency|De Vivo Disease]] (GLUT1 deficiency) 
* [[Fanconi-Bickel syndrome]] (GLUT2 deficiency)


  }}
  }}
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* [[Glycogen storage disease type IV|GSD type IV]] (Andersen's disease, branching enzyme deficiency)
* [[Glycogen storage disease type IV|GSD type IV]] (Andersen's disease, branching enzyme deficiency)
* [[Adult polyglucosan body disease]] (APBD)
* [[Adult polyglucosan body disease]] (APBD)
* [[Lafora disease]]
* [[GSD type XV]] (glycogenin deficiency)


   | group2 = [[Glycogenolysis]]
   | group2 = [[Glycogenolysis]]
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* [[Glycogen storage disease type V|GSD type V]] (McArdle's disease, myophosphorylase deficiency)  
* [[Glycogen storage disease type V|GSD type V]] (McArdle's disease, myophosphorylase deficiency)  
* [[Glycogen storage disease type IX|GSD type IX]] (phosphorylase kinase deficiency)
* [[Glycogen storage disease type IX|GSD type IX]] (phosphorylase kinase deficiency)
* [[Phosphoglucomutase#Disease_relevance|Phosphoglucomutase deficiency]] (PGM1-CDG, CDG1T, formerly GSD-XIV)


     | group2 = {{nobold|[[Lysosome|Lysosomal]] ([[Lysosomal storage disease|LSD]]):}}  
     | group2 = {{nobold|[[Lysosome|Lysosomal]] ([[Lysosomal storage disease|LSD]]):}}  
     | list2 =
     | list2 =
* [[Glycogen storage disease type II]] (Pompe's disease, glucosidase deficiency, formerly GSD-IIa)
* [[Glycogen storage disease type II|GSD type II]] (Pompe's disease, glucosidase deficiency)
* [[Danon disease]] (LAMP2 deficiency, formerly GSD-IIb)


   }}
   }}
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* [[Triosephosphate isomerase deficiency]]
* [[Triosephosphate isomerase deficiency]]
* [[Pyruvate kinase deficiency]]
* [[Pyruvate kinase deficiency]]
* [[Aldolase A deficiency]]
* Phosphoglucose isomerase deficiency
* Phosphoglycerate kinase deficiency
* [[MPC1|Mitochondrial pyruvate carrier deficiency]] (MPC1 deficiency)


   | group2 = [[Gluconeogenesis]]
   | group2 = [[Gluconeogenesis]]
   | list2 =
   | list2 =
* [[Pyruvate carboxylase deficiency]]
* [[Pyruvate carboxylase deficiency|PCD]]
* [[Fructose bisphosphatase deficiency]]
* [[Fructose bisphosphatase deficiency]]
* [[Glycogen storage disease type I|GSD type I]] (von Gierke's disease, glucose 6-phosphatase deficiency)
* [[Glycogen storage disease type I|GSD type I]] (von Gierke's disease, glucose 6-phosphatase deficiency)
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* [[Glucose-6-phosphate dehydrogenase deficiency]]
* [[Glucose-6-phosphate dehydrogenase deficiency]]
* [[Transaldolase deficiency]]
* [[Transaldolase deficiency]]
* [[Transketolase#Role_in_disease|SDDHD]] (Transketolase deficiency)
* [[6-phosphogluconate dehydrogenase deficiency]]
* [[6-phosphogluconate dehydrogenase deficiency]]


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** [[Primary hyperoxaluria]]
** [[Primary hyperoxaluria]]
* [[Pentosuria]]
* [[Pentosuria]]
* Fatal congenital nonlysosomal cardiac glycogenosis ([[AMP-activated protein kinase]] deficiency, [[PRKAG2]])
* [[Aldolase A deficiency]]


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[[Category:Metabolic disorder templates]]
[[Category:Metabolic disorder templates]]
</noinclude>
</noinclude>
{{no-index-template}}

Revision as of 04:01, 30 April 2024

Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (E73–E74, 271)
Including glycogen storage diseases (GSD)
Sucrose, transport
(extracellular)
Hexose → glucose
Glucose ⇄ glycogen
Glycogenesis
* GSD type 0 (glycogen synthase deficiency)
Glycogenolysis
Extralysosomal:
* GSD type III (Cori's disease, debranching enzyme deficiency)
  • GSD type VI (Hers' disease, liver glycogen phosphorylase deficiency)
  • GSD type V (McArdle's disease, myophosphorylase deficiency)
  • GSD type IX (phosphorylase kinase deficiency)
Lysosomal (LSD):
* GSD type II (Pompe's disease, glucosidase deficiency)
Glucose ⇄ CAC
Glycolysis
* MODY 2/HHF3
Gluconeogenesis
* PCD


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