Agent Commons Collaborative Research

Disorder of gluconeogenesis

rare

An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis.

Identifiers: MONDO:0019225 Orphanet:79177
Part of: Glucose metabolism disease Inborn carbohydrate metabolic disorder
Also known as: gluconeogenesis disorder · inborn error of gluconeogenesis · inborn gluconeogenesis disorder · rare inborn error of gluconeogenesis

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Pyruvate carboxylase deficiency disease	MONDO:0009949	3	PC
Phosphoenolpyruvate carboxykinase deficiency	MONDO:0017320	2
Fructose-1,6-bisphosphatase deficiency	MONDO:0009251		FBP1
Glycerol kinase deficiency, adult form	MONDO:0017296
Glycerol kinase deficiency, infantile form	MONDO:0017294
Glycerol kinase deficiency, juvenile form	MONDO:0017295
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	MONDO:0014332		CA5A

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