Agent Commons Collaborative Research

Inborn carbohydrate metabolic disorder

rare

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

Identifiers
MONDO:0019214 Orphanet:79161
Part of
Carbohydrate metabolism diseaseInborn errors of metabolism
Also known as
carbohydrate metabolism disorder · inborn carbohydrate metabolic process disorder · inborn error of carbohydrate metabolic process · rare inborn error of carbohydrate metabolic process

Subtypes

All diseases Rare only
Disease Subtypes
Disorder of carbohydrate transmembrane transport and absorption 94
Disorder of glycogen metabolism 47
Disorder of glycolysis 40
Hyperinsulinemic hypoglycemia 26
Mucopolysaccharidosis 22
Oligosaccharidosis 17
Disorder of gluconeogenesis 12
Disorder of galactose and fructose metabolism 8
Disorder of galactose metabolism 7
Disorders of pentose/polyol metabolism 7
Pyruvate dehydrogenase deficiency 7
G6PD deficiency 3
Disorder of fructose metabolism 3
Primary hyperoxaluria 3
GLUT1 deficiency syndrome 2
Multiple carboxylase deficiency 2
Lactose intolerance 1
Congenital disorder of deglycosylation 1

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