Carbohydrate Metabolic Disorder

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Carbohydrate Metabolic Disorder

MalaCards integrated aliases for Carbohydrate Metabolic Disorder:

Name: Carbohydrate Metabolic Disorder 12 15
Disorder of Carbohydrate Metabolism 58 29 71
Carbohydrate Metabolism, Inborn Errors 43 71
Disorder of Carbohydrate Transport and Metabolism 12
Inborn Errors of Carbohydrate Metabolism 12
Inborn Carbohydrate Metabolism Disorder 12
Carbohydrate Metabolism Disorders 42
Carbohydrate Metabolism Disorder 54


Orphanet: 58  
Inborn errors of metabolism

External Ids:

Disease Ontology 12 DOID:2978
MeSH 43 D002239
ICD10 32 E74 E74.8 E74.9
UMLS via Orphanet 72 C0149670
Orphanet 58 ORPHA79161
UMLS 71 C0007001 C0149670

Summaries for Carbohydrate Metabolic Disorder

MedlinePlus : 42 Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process. Carbohydrate metabolism disorders are a group of metabolic disorders. Normally your enzymes break carbohydrates down into glucose (a type of sugar). If you have one of these disorders, you may not have enough enzymes to break down the carbohydrates. Or the enzymes may not work properly. This causes a harmful amount of sugar to build up in your body. That can lead to health problems, some of which can be serious. Some of the disorders are fatal. These disorders are inherited. Newborn babies get screened for many of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder. Treatments may include special diets, supplements, and medicines. Some babies may also need additional treatments, if there are complications. For some disorders, there is no cure, but treatments may help with symptoms.

MalaCards based summary : Carbohydrate Metabolic Disorder, also known as disorder of carbohydrate metabolism, is related to galactosemia and hyperinsulinemic hypoglycemia. An important gene associated with Carbohydrate Metabolic Disorder is INS (Insulin), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Bexarotene and Glucagon have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and heart, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.

Related Diseases for Carbohydrate Metabolic Disorder

Diseases related to Carbohydrate Metabolic Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 244)
# Related Disease Score Top Affiliating Genes
1 galactosemia 32.9 PMM2 LCT GALT GALK1 G6PC CRYAA
2 hyperinsulinemic hypoglycemia 32.6 PMM2 INS H2AC18 ABCC8
3 glycogen storage disease ia 31.9 SLC37A4 G6PC AGL
4 glycogen storage disease 31.5 SLC37A4 SI PYGM MGAM INS GBE1
5 glycogen storage disease iii 31.4 SLC37A4 SI MGAM GBE1 GAA G6PC
6 transient neonatal diabetes mellitus 31.4 INS H2AC18 ABCC8
7 neonatal diabetes mellitus 31.4 INS H2AC18 ABCC8
8 primary hyperoxaluria 31.3 PRODH HOGA1 GRHPR AGXT
9 fanconi-bickel syndrome 31.2 INS G6PC ABCC8
10 glycogen storage disease vi 31.2 PYGM G6PC AGL
11 galactose epimerase deficiency 31.2 GALT GALK1
12 glycogen storage disease iv 31.1 GBE1 GAA G6PC
13 galactokinase deficiency 31.1 GALT GALK1 CRYAA
14 glycogen storage disease vii 31.1 PYGM GBE1 AGL
15 glycogen storage disease ii 31.0 SI PYGM MGAM GAA AGL
16 hypoglycemia 30.8 SLC37A4 INS G6PC AGL ABCC8
17 hyperuricemia 30.5 SLC37A4 INS G6PC
18 familial hyperlipidemia 30.5 SLC37A4 INS H2AC18 G6PC AGL
19 fructose-1,6-bisphosphatase deficiency 11.7
20 pyruvate carboxylase deficiency 11.5
21 pyruvate dehydrogenase e1-alpha deficiency 11.5
22 pentosuria 11.4
23 sucrase-isomaltase deficiency, congenital 11.2
24 lactase deficiency, congenital 11.2
25 spinal muscular atrophy, type iii 11.2
26 spinal muscular atrophy, type iv 11.2
27 congenital disorder of glycosylation, type in 11.2
28 congenital disorder of deglycosylation 11.2
29 glucosephosphate dehydrogenase deficiency 11.2
30 proximal spinal muscular atrophy 11.2
31 mucopolysaccharidosis, type ii 11.2
32 pneumatosis cystoides intestinalis 10.6 SI MGAM
33 postgastrectomy syndrome 10.6 SI MGAM INS
34 glycogen storage disease due to glucose-6-phosphatase deficiency 10.6
35 rumination disorder 10.6 H2AC18 AGXT
36 dumping syndrome 10.6 SI MGAM INS
37 lactose intolerance 10.6 SI LCT INS
38 acute insulin response 10.6 PYGM INS ABCC8
39 mineral metabolism disease 10.6 INS H2AC18 AGXT
40 amino acid metabolic disorder 10.6 PRODH H2AC18 CRYAA
41 retinal vascular disease 10.6 INS H2AC18 CRYAA
42 retinal microaneurysm 10.6 INS GBE1
43 hyperinsulinemic hypoglycemia, familial, 2 10.6 INS H2AC18 ABCC8
44 barre-lieou syndrome 10.6 SI MGAM
45 urethral calculus 10.6 HOGA1 GRHPR
46 muscle tissue disease 10.6 PRODH INS H2AC18 CRYAA
47 placenta disease 10.6 PRODH INS H2AC18
48 myostatin-related muscle hypertrophy 10.6 SI MGAM
49 endocrine pancreas disease 10.6 INS G6PC ABCC8
50 lens disease 10.6 INS H2AC18 GALK1 CRYAA

Graphical network of the top 20 diseases related to Carbohydrate Metabolic Disorder:

Diseases related to Carbohydrate Metabolic Disorder

Symptoms & Phenotypes for Carbohydrate Metabolic Disorder

GenomeRNAi Phenotypes related to Carbohydrate Metabolic Disorder according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 10.07 GALK1
2 Decreased viability GR00240-S-1 10.07 GALK1
3 Decreased viability GR00381-A-1 10.07 AGXT GALT GRHPR PRODH
4 Decreased viability GR00402-S-2 10.07 ABCC8 AGL AGXT CRYAA G6PC GAA
5 no effect GR00402-S-1 9.62 ABCC8 AGL AGXT CRYAA G6PC GAA

MGI Mouse Phenotypes related to Carbohydrate Metabolic Disorder:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 ABCC8 AGL AGXT G6PC GAA GALK1
2 liver/biliary system MP:0005370 9.56 AGL G6PC GALT GBE1 HOGA1 INS
3 renal/urinary system MP:0005367 9.23 AGXT G6PC GRHPR HOGA1 INS PMM2

Drugs & Therapeutics for Carbohydrate Metabolic Disorder

Drugs for Carbohydrate Metabolic Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
Glucagon Approved Phase 4 16941-32-5
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
4 Gastrointestinal Agents Phase 4
5 Hypoglycemic Agents Phase 4
6 Anti-Obesity Agents Phase 4
7 Incretins Phase 4
8 Hormone Antagonists Phase 4
9 Glucagon-Like Peptide 1 Phase 4
10 Hormones Phase 4
Glycerol Approved, Investigational Phase 2 56-81-5 753
12 Protective Agents Phase 2
Caffeine Approved 58-08-2 2519
Acetylcysteine Approved, Investigational 616-91-1 12035
Cysteine Approved, Nutraceutical 52-90-4 5862
16 Anti-Infective Agents
17 Respiratory System Agents
18 Antioxidants
19 Free Radical Scavengers
20 Antiviral Agents
21 N-monoacetylcystine
22 insulin
23 Insulin, Globin Zinc
24 Antidotes
25 Expectorants

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Estimation of Carbohydrate Metabolism Disorder Frequency in Hypertriglyceridemia Induced by Bexarotene Treatment of Cutaneous T Cell Lymphoma - Pilote Study Completed NCT01569724 Phase 4
2 The Efficacy of a Once Weekly Glucagon-Like Peptide-1 Agonist on Body Weight/Composition and Metabolic Parameters in Persons With SCI Not yet recruiting NCT03292315 Phase 4 Exenatide 2 MG Injection [Bydureon]
3 A Multicenter, Double-Blind, Placebo-Controlled Trial to Evaluate the Frequency of Genetic Sucrase-Isomaltase Deficiency Genotypes, and the Efficacy and Safety of Sucraid® (Sacrosidase) Oral Solution in Subjects With Chronic Diarrhea and Sucrase Deficiency Withdrawn NCT02784067 Phase 4 Sucraid;Placebo
4 A Phase 3, Randomized, Double-blind, Placebo-controlled, Crossover Study to Assess the Efficacy and Safety of UX007 in the Treatment of Movement Disorders Associated With Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Terminated NCT02960217 Phase 3 UX007;Placebo
5 A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Completed NCT02324049 Phase 1, Phase 2 SBC-103
6 A Randomized, Double-blind, Placebo-controlled, Parallel-group, Study to Assess the Safety and Efficacy of UX007 in Subjects With Glucose Transporter Type 1 Deficiency Syndrome Completed NCT01993186 Phase 2 UX007 (triheptanoin);Placebo Oil
7 An Open-Label Trial of Triheptanoin in Patients With Glucose Transporter Type-1 Deficiency Syndrome (GLUT1 DS) Recruiting NCT02036853 Phase 2 Triheptanoin
8 An Open-label Extension Study to Assess the Long-term Safety and Efficacy of UX007 in Subjects With Glucose Transporter Type 1 Deficiency Syndrome Terminated NCT02599961 Phase 2 UX007
9 Validation of Carbohydrate Intolerance Questionnaire Completed NCT03138902
10 A Multi-Center Study of the Prevalence of Known Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Variants and Functional Sucrase Activity by 13C-Sucrose Breath Test in Children With Chronic Diarrhea or Chronic Abdominal Pain Completed NCT01914003
11 Can Platelets/Lymphocytes Rate Be New Serological Index for Prognosis of Coronary Heart Disease Complicated With Impaired Glucose Tolerance: Basic Principles and Experimental Design Completed NCT02149056
12 The Glucose Transporter Type I Deficiency (G1D) Registry Recruiting NCT02013583
13 Evaluation of METAglut1 Diagnostic Test Performances in Patients With a Clinical Suspicion of GLUT1 Deficiency Syndrome Recruiting NCT03722212
14 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Active, not recruiting NCT02635269
15 A Long-Term Follow-up Study to Evaluate the Safety and Efficacy of Adeno Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Glucose-6-Phosphatase (G6Pase) in Adults With Glycogen Storage Disease Type Ia (GSDIa) Enrolling by invitation NCT03970278
16 Does N-acetyl-cysteine Treatment Improves Carbohydrate Metabolism in Obese Women? Not yet recruiting NCT03902327

Search NIH Clinical Center for Carbohydrate Metabolic Disorder

Cochrane evidence based reviews: carbohydrate metabolism, inborn errors

Genetic Tests for Carbohydrate Metabolic Disorder

Genetic tests related to Carbohydrate Metabolic Disorder:

# Genetic test Affiliating Genes
1 Disorder of Carbohydrate Metabolism 29

Anatomical Context for Carbohydrate Metabolic Disorder

MalaCards organs/tissues related to Carbohydrate Metabolic Disorder:

Testes, Liver, Heart, Brain, Kidney, Thyroid, T Cells

Publications for Carbohydrate Metabolic Disorder

Articles related to Carbohydrate Metabolic Disorder:

(show top 50) (show all 81)
# Title Authors PMID Year
Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review. 42
31725618 2019
The Mechanisms of Regulation of Aerobic Glycolysis (Warburg Effect) by Oncoproteins in Carcinogenesis. 42
31694508 2019
Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency. 42
31483964 2019
[Carbohydrate metabolic disorder in women with a neuroendocrine syndrome]. 54 61
8017575 1994
Mitigating Perspectives of Asiatic acid in the Renal derangements of Streptozotocin-Nicotinamide induced Diabetic Rats. 61
32003703 2020
Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease. 61
31511858 2020
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency. 61
30718057 2019
Diabetic ketoacidosis in a buck: a case report. 61
31656528 2019
In-vivo anti-diabetic and wound healing potential of chitosan/alginate/maltodextrin/pluronic-based mixed polymeric micelles: Curcumin therapeutic potential. 61
30195611 2018
Validation of an automated ultraperformance liquid chromatography IgG N-glycan analytical method applicable to classical galactosaemia. 61
29444593 2018
Anti-hyperglycemic and antioxidant potential of Croton bonplandianus. Bail fractions in correlation with polyphenol content. 61
29238476 2017
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control. 61
28397058 2017
A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis. 61
30035403 2017
Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations. 61
29624224 2017
Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review. 61
27502837 2017
[The analysis of level of total immunoglobulin E (IgE) in blood serum of patients with various types of disorders of carbohydrate metabolism and blood groups 0 (I), A (II) and B (III).] 61
30802394 2017
Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation. 61
27771652 2016
Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis. 61
26733289 2016
The Introduction of Submitted Approaches in Iranian Traditional Medicine for Treatment of Diabetes. 61
27840534 2016
IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia. 61
26419375 2016
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability. 61
25388407 2015
[Kidney diseases and metabolic disorders-Basics and applications required for general physicians. Topics: II. Disorder of carbohydrate metabolism]. 61
26591340 2015
[SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome]. 61
25919556 2015
Fanconi-Bickel syndrome - mutation in SLC2A2 gene. 61
24912437 2014
Energy substrate metabolism in pyruvate dehydrogenase complex deficiency. 61
24914713 2014
Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism? 61
25174965 2014
Metabolic profiling reveals disorder of carbohydrate metabolism in mouse fibroblast cells induced by titanium dioxide nanoparticles. 61
22996321 2013
Quality of life in children treated with restrictive diet for inherited metabolic disease. 61
23461789 2013
Protective effects of vescalagin from pink wax apple [Syzygium samarangense (Blume) Merrill and Perry] fruit against methylglyoxal-induced inflammation and carbohydrate metabolic disorder in rats. 61
23819528 2013
Insulin resistance in children with primary nephrotic syndrome and normal renal function. 61
22623021 2012
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity. 61
24175243 2012
Hepatocellular carcinoma and focal nodular hyperplasia of the liver in a glycogen storage disease patient. 61
22761970 2012
Galactosemia: when is it a newborn screening emergency? 61
22483615 2012
Lafora progressive myoclonus epilepsy: recent insights into cell degeneration. 61
22369717 2012
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. 61
22214819 2012
Lafora disease: epidemiology, pathophysiology and management. 61
20527995 2010
Characterisation of Lafora-like bodies and other polyglucosan bodies in two aged dogs with neurological disease. 61
19010069 2010
Outcomes of siblings with classical galactosemia. 61
19181333 2009
A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome. 61
19480329 2009
Catalase activity, lipid peroxidation, cholesterol and triglyceride levels in alloxan--induced diabetes mellitus in female and male rats. 61
20830981 2009
Hypoglycemic and hypolipidemic effects of the aqueous fresh leaves extract of Clerodendrum capitatum in Wistar rats. 61
18055145 2008
Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine. 61
17603756 2007
Exercise capacity and biochemical profile during exercise in patients with glycogen storage disease type I. 61
15671110 2005
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. 61
15532022 2004
[Disorder of carbohydrate metabolism]. 61
15206146 2004
Hippocampal synaptic plasticity and glutamate receptor regulation: influences of diabetes mellitus. 61
15094084 2004
Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC. 61
14741195 2004
Regulation of blood glucose level in diabetes mellitus using palatable diet composition. 61
14626853 2003
Concurrent hyperglycemia does not influence the long-term prognosis of unresectable hepatocellular carcinomas. 61
12918136 2003
[Characteristics of lipid profile in blood plasma of patients with metabolic syndrome and manifest disorder of carbohydrate metabolism]. 61
14669600 2003

Variations for Carbohydrate Metabolic Disorder

Expression for Carbohydrate Metabolic Disorder

Search GEO for disease gene expression data for Carbohydrate Metabolic Disorder.

Pathways for Carbohydrate Metabolic Disorder

Pathways related to Carbohydrate Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
Show member pathways
Show member pathways
Show member pathways
7 11.33 SLC37A4 SI MGAM LCT G6PC
8 11.28 INS G6PC ABCC8
9 11.17 PYGM GBE1 AGL
11 10.45 SI MGAM LCT

GO Terms for Carbohydrate Metabolic Disorder

Biological processes related to Carbohydrate Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.74 SLC37A4 INS G6PC
2 metabolic process GO:0008152 9.73 SI PYGM MGAM LCT GAA AGL
3 glucose metabolic process GO:0006006 9.71 SLC37A4 INS GAA
4 galactose metabolic process GO:0006012 9.56 GALT GALK1
5 cellular nitrogen compound metabolic process GO:0034641 9.55 GRHPR AGXT
6 glyoxylate metabolic process GO:0046487 9.54 HOGA1 GRHPR AGXT
7 galactose catabolic process GO:0019388 9.52 GALT GALK1
8 glucose-6-phosphate transport GO:0015760 9.51 SLC37A4 G6PC
9 polysaccharide digestion GO:0044245 9.5 SI MGAM LCT
10 pyruvate biosynthetic process GO:0042866 9.49 HOGA1 AGXT
11 galactose catabolic process via UDP-galactose GO:0033499 9.48 GALT GALK1
12 4-hydroxyproline catabolic process GO:0019470 9.46 PRODH HOGA1
13 glycogen catabolic process GO:0005980 9.46 PYGM GAA G6PC AGL
14 glyoxylate catabolic process GO:0009436 9.43 HOGA1 AGXT
15 glycogen metabolic process GO:0005977 9.43 SLC37A4 PYGM GBE1 GAA G6PC AGL
16 maltose metabolic process GO:0000023 9.4 MGAM GAA
17 carbohydrate metabolic process GO:0005975 9.28 SI PYGM MGAM LCT INS GBE1

Molecular functions related to Carbohydrate Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.71 PYGM MGAM LCT GAA
2 carbohydrate binding GO:0030246 9.67 SI MGAM GAA AGL
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.35 SI MGAM LCT GAA AGL
4 alpha-glucosidase activity GO:0090599 9.32 MGAM GAA
5 maltose alpha-glucosidase activity GO:0032450 9.26 MGAM GAA
6 alpha-1,4-glucosidase activity GO:0004558 9.16 MGAM GAA
7 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.02 SI MGAM LCT GBE1 GAA

Sources for Carbohydrate Metabolic Disorder

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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