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Term:
carbohydrate metabolic disorder (DOID:2978)
Annotations: Rat: (385) Mouse: (387) Human: (418) Chinchilla: (348) Bonobo: (356) Dog: (371) Squirrel: (348) Pig: (369)
Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
3-Hydroxyacyl-CoA Dehydrogenase Deficiency  
3-methylglutaconic aciduria +   
5-Nucleotidase Syndrome 
6-Phosphogluconolactonase Deficiency 
Acetylcarnitine Deficiency 
Acholinesterasemia 
Acid Phosphatase Deficiency  
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
Alpha-Fetoprotein Deficiency  
amino acid metabolic disorder +   
Amino Acid Transport Disorders, Inborn +   
Angiotensin I-Converting Enzyme, Benign Serum Increase  
Arene Oxide Detoxification Defect 
aromatase excess syndrome  
Aryl Hydrocarbon Hydroxylase Inducibility 
bilirubin metabolic disorder +   
Butyrylcholinesterase Deficiency  
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type  
carbohydrate metabolic disorder +   
Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero.
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO  
Carnitine Acetyltransferase Deficiency  
CHITOTRIOSIDASE DEFICIENCY  
Chromate Resistance 
Combined Congenital Deficiency of Intrinsic Factor and R Binder 
Combined Defect of Growth Factors 
Combined Exocrine Pancreatic Insufficiency 
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA  
congenital leptin deficiency  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
Copper Deficiency, Familial Benign 
Coumarin Sensitivity  
cytochrome-c oxidase deficiency disease +   
Deafness Hyperuricemia Neurologic Ataxia 
Defect in Hyaluronan Metabolism 
Deficient N-Hydroxylation of Amobarbital 
Deoxyribose-5-Phosphate Aldolase Deficiency 
Diphenylhydantoin, Defect in Hydroxylation of 
dopamine beta-hydroxylase deficiency  
Efavirenz, Poor Metabolism of  
enterokinase deficiency  
Ethanolaminosis 
Familial Amyloidosis +   
familial erythrocytosis 8  
Familial Hypokalemia 
FUCOSYLTRANSFERASE 6 DEFICIENCY  
Glucocorticoid Receptor Deficiency  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
glycerol kinase deficiency  
Glycoprotein Storage Disease 
Glyoxalase II Deficiency 
Gordon Holmes syndrome  
Greenberg dysplasia  
Hereditary Hyperbilirubinemia +   
Hypercalcemia, Infantile, 1  
Hypercatabolic Hypoproteinemia  
Hypoadiponectinemia  
Inosine Triphosphatase Deficiency  
isolated elevated serum creatine phosphokinase levels  
isolated hyperchlorhidrosis  
Kallikrein, Decreased Urinary Activity of  
Lactate Dehydrogenase B Deficiency  
Lactic Aciduria due to D-Lactic Acid  
Leptin Receptor Deficiency  
Leukotriene C4 Synthase Deficiency  
lipid metabolism disorder +   
lysosomal storage disease +   
Malonic Aciduria  
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 
Mannose-Binding Protein Deficiency  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Metabolic Brain Diseases, Inborn +   
metal metabolism disorder +   
Methemoglobin Reductase Deficiency 
Methylmalonyl-Coenzyme A Mutase Deficiency 
mitochondrial complex II deficiency  
mitochondrial metabolism disease +   
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY  
Monocarboxylate Transporter 1 Deficiency  
Myeloperoxidase Deficiency  
N Acetyltransferase Deficiency +   
Nonfunctional L-Gulonolactone Oxidase 
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency  
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency  
overhydrated hereditary stomatocytosis  
peroxisomal disease +   
Phenacetin O-Deethylase, Deficiency of  
Phenol Sulfotransferase Deficiency 
Phosphoglycerate Kinase 1 Deficiency  
Phosphohydroxylysinuria  
plasma protein metabolism disease +   
Poor Drug Metabolism, CYP2C19-Related  
Poor Drug Metabolism, CYP2D6-Related  
porphyria +   
progeria +   
Proguanil, Poor Metabolism of  
purine-pyrimidine metabolic disorder +   
pyrimidine metabolic disorder +   
renal tubular transport disease +   
Retinol-Binding Protein Deficiency 
SEDOHEPTULOKINASE DEFICIENCY  
sepiapterin reductase deficiency  
Squalene Synthase Deficiency  
steroid inherited metabolic disorder +   
Stomatocytosis II  
Succinic Acidemia 
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  
thiopurine S-methyltransferase deficiency +   
Thyrotropin-Releasing Hormone Deficiency  
Transcobalamin I Deficiency  
trimethylaminuria  
Trypsinogen Deficiency 
Uridine-Cytidineuria  
vitamin metabolic disorder +   
warfarin resistance  
warfarin sensitivity  
Weinstein Kliman Scully Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
 galactosemia +   

Synonyms
Exact Synonyms: Carbohydrate Metabolism, Inborn Error ;   Carbohydrate Metabolism, Inborn Errors ;   disorder of carbohydrate transport and metabolism ;   inborn carbohydrate metabolism disorder ;   inborn errors of carbohydrate metabolism
Primary IDs: MESH:D002239
Alternate IDs: RDO:0001064
Xrefs: OMIM:PS606777
Definition Sources: http://en.wikipedia.org/wiki/Inborn_errors_of_carbohydrate_metabolism "DO", MESH:D002239

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