Carbohydrate Metabolic Disorder

Categories: 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 44 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 44 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 primary hyperoxaluria and familial hyperlipidemia. An important gene associated with Carbohydrate Metabolic Disorder is H2AC18 (H2A Clustered Histone 18), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Bexarotene and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, kidney and pancreas.

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 150)
# Related Disease Score Top Affiliating Genes
1 primary hyperoxaluria 32.1 SUV39H1 SETDB1 PRODH KDM4C H3-2 H2AC18
2 familial hyperlipidemia 30.6 SLC37A4 INS G6PC1
3 mucopolysaccharidosis, type ii 11.1
4 spinal muscular atrophy, type iii 11.1
5 spinal muscular atrophy, type iv 11.1
6 proximal spinal muscular atrophy 11.1
7 sucrase-isomaltase deficiency, congenital 11.1
8 lactase deficiency, congenital 11.1
9 fructose-1,6-bisphosphatase deficiency 11.1
10 fructosuria, essential 11.1
11 galactosemia i 11.1
12 pyruvate carboxylase deficiency 11.1
13 pyruvate dehydrogenase e1-alpha deficiency 11.1
14 congenital disorder of glycosylation, type in 11.1
15 congenital disorder of deglycosylation 11.1
16 hyperinsulinemic hypoglycemia 11.1
17 glucosephosphate dehydrogenase deficiency 11.1
18 alpha thalassemia-x-linked intellectual disability syndrome 10.5 H3-2 H2AC18 CBX5
19 mature t-cell and nk-cell lymphoma 10.5 KDM4C H3-2 H2AC18
20 pneumatosis cystoides intestinalis 10.5 SI MGAM
21 hirata disease 10.5 SI MGAM INS
22 postgastrectomy syndrome 10.5 SI MGAM INS
23 parathyroid gland disease 10.5 PRODH KDM4C INS
24 kleefstra syndrome 1 10.5 KDM4C H2AC18 EHMT2
25 rhabdoid cancer 10.5 PRODH KDM4C H2AC18
26 hypotrichosis 2 10.5 PRODH H3-2 H2AC18
27 weaver syndrome 10.5 KDM4C H3-2 H2AC18
28 hypotrichosis 1 10.5 KDM4C INS H3-2 H2AC18
29 germ cell and embryonal cancer 10.5 PRODH KDM4C H2AC18
30 functional gastric disease 10.5 SI MGAM INS
31 mental depression 10.5 PRODH INS H2AC18
32 retinal cancer 10.5 KDM4C H3-2 H2AC18 CRYAA
33 nasopharyngitis 10.5 SI MGAM INS
34 chromosome 16p13.3 deletion syndrome, proximal 10.5 KDM4C H3-2 H2AC18
35 amino acid metabolic disorder 10.5 PRODH KDM4C H2AC18 CRYAA
36 kleefstra syndrome 10.5 KDM4C H3-2 H2AC18 EHMT2
37 glycogen storage disease due to glucose-6-phosphatase deficiency 10.5 SLC37A4 GAA G6PC1
38 hyperinsulinemic hypoglycemia, familial, 2 10.5 INS H3-2 H2AC18
39 chromosomal duplication syndrome 10.5 PRODH KDM4C H2AC18 CRYAA
40 sphingolipidosis 10.5 MGAM H2AC18 CRYAA
41 diabetes mellitus, ketosis-prone 10.5 SI MGAM INS
42 lens disease 10.5 INS H2AC18 CRYAA
43 eye degenerative disease 10.5 PRODH KDM4C H2AC18 CRYAA
44 muscular disease 10.5 PRODH INS H2AC18 CRYAA
45 hair disease 10.5 KDM4C INS H2AC18
46 retinitis pigmentosa 11 10.5 PRODH KDM4C H3-2 H2AC18
47 chromosomal disease 10.5 PRODH KDM4C H2AC18 CRYAA
48 integumentary system disease 10.5 PRODH KDM4C INS H2AC18
49 retinal vascular disease 10.5 INS H2AC18 CRYAA
50 barre-lieou syndrome 10.5 SI MGAM

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

Diseases related to Carbohydrate Metabolic Disorder

Symptoms & Phenotypes for Carbohydrate Metabolic Disorder

Drugs & Therapeutics for Carbohydrate Metabolic Disorder

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
Glycerol Approved, Investigational Phase 2 56-81-5 753
3 Protective Agents Phase 2
Caffeine Approved 58-08-2 2519
Acetylcysteine Approved, Investigational 616-91-1 12035
Cysteine Approved, Nutraceutical 52-90-4 5862
7 N-monoacetylcystine
8 Insulin, Globin Zinc
9 insulin
10 carnitine

Interventional clinical trials:

(show all 14)
# 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 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
3 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
4 An Open-Label Trial of Triheptanoin in Patients With Glucose Transporter Type-1 Deficiency Syndrome (GLUT1 DS) Completed NCT02036853 Phase 2 Triheptanoin
5 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;Placebo
6 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
7 Evaluation of METAglut1 Diagnostic Test Performances in Patients With a Clinical Suspicion of GLUT1 Deficiency Syndrome Unknown status NCT03722212
8 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
9 Validation of Carbohydrate Intolerance Questionnaire Completed NCT03138902
10 Does N-acetyl-cysteine Treatment Improves Carbohydrate Metabolism in Obese Women? Recruiting NCT03902327
11 The Glucose Transporter Type I Deficiency (G1D) Registry Recruiting NCT02013583
12 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Active, not recruiting NCT02635269
13 An Open-label Intermediate-size Treatment Protocol for the Urgent Treatment of Seriously Ill Patients With Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) With Triheptanoin (UX007) Available NCT03773770 Triheptanoin
14 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

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:

Spinal Cord, Kidney, Pancreas

Publications for Carbohydrate Metabolic Disorder

Articles related to Carbohydrate Metabolic Disorder:

(show top 50) (show all 85)
# Title Authors PMID Year
The key role of Warburg effect in SARS-CoV-2 replication and associated inflammatory response. 42
33189832 2021
Case 38-2020: A 52-Year-Old Man with Cancer and Acute Hypoxemia. 42
33296564 2020
Glucose-6-phosphate dehydrogenase deficiency enhances Covid-19 infection in elderly people. 42
33164538 2020
[Carbohydrate metabolic disorder in women with a neuroendocrine syndrome]. 54 61
8017575 1994
A founder noncoding GALT variant interfering with splicing causes galactosemia. 61
32748411 2020
Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway. 61
33159679 2020
Fanconi-Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia. 61
32877990 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
Mitigating Perspectives of Asiatic Acid in the Renal Derangements of Streptozotocin-Nicotinamide Induced Diabetic Rats. 61
32003703 2020
Health-Related Quality of Life and Associated Factors Among Type Two Diabetic Patients on Follow-Up in Dessie Comprehensive Specialized Hospital, Dessie, North East Ethiopia, 2020. 61
33244250 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
[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
Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review. 61
27502837 2017
Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations. 61
29624224 2017
A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis. 61
30035403 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
[Kidney diseases and metabolic disorders-Basics and applications required for general physicians. Topics: II. Disorder of carbohydrate metabolism]. 61
26591340 2015
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability. 61
25388407 2015
[SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome]. 61
25919556 2015
Energy substrate metabolism in pyruvate dehydrogenase complex deficiency. 61
24914713 2014
Fanconi-Bickel syndrome - mutation in SLC2A2 gene. 61
24912437 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

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

GO Terms for Carbohydrate Metabolic Disorder

Cellular components related to Carbohydrate Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.88 SLC37A4 SETDB1 PRODH GAA G6PC1 AGXT
2 chromosome GO:0005694 9.73 SUV39H1 SETDB1 H3-2 H2AC18 EHMT2 CBX5
3 chromosome, centromeric region GO:0000775 9.62 SUV39H1 CBX5 CBX3 CBX1
4 chromocenter GO:0010369 9.37 CBX5 CBX1
5 site of DNA damage GO:0090734 9.33 CBX5 CBX3 CBX1
6 pericentric heterochromatin GO:0005721 9.13 CBX5 CBX3 CBX1
7 heterochromatin GO:0000792 8.92 SUV39H1 CBX5 CBX3 CBX1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.8 SUV39H1 SETDB1 KDM4C EHMT2 CBX3
2 metabolic process GO:0008152 9.76 SI PYGM MGAM GAA
3 glucose homeostasis GO:0042593 9.7 SLC37A4 INS G6PC1
4 glucose metabolic process GO:0006006 9.67 SLC37A4 INS GAA
5 negative regulation of G0 to G1 transition GO:0070317 9.54 EHMT2 CBX5 CBX3
6 histone H3-K9 methylation GO:0051567 9.51 SETDB1 EHMT2
7 glucose-6-phosphate transport GO:0015760 9.48 SLC37A4 G6PC1
8 polysaccharide digestion GO:0044245 9.43 SI MGAM
9 histone lysine methylation GO:0034968 9.43 SUV39H1 SETDB1 EHMT2
10 carbohydrate metabolic process GO:0005975 9.43 SI PYGM MGAM INS GALT GAA
11 glycogen catabolic process GO:0005980 9.33 PYGM GAA G6PC1
12 maltose metabolic process GO:0000023 9.32 MGAM GAA
13 glycogen metabolic process GO:0005977 8.92 SLC37A4 PYGM GAA G6PC1

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 9.88 SI PYGM MGAM GAA AGXT
2 chromatin binding GO:0003682 9.8 SUV39H1 SETDB1 KDM4C CBX5 CBX1
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.63 SI MGAM GAA
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.5 SI MGAM GAA
5 histone methyltransferase binding GO:1990226 9.43 CBX3 CBX1
6 alpha-glucosidase activity GO:0090599 9.37 MGAM GAA
7 histone-lysine N-methyltransferase activity GO:0018024 9.33 SUV39H1 SETDB1 EHMT2
8 maltose alpha-glucosidase activity GO:0032450 9.26 MGAM GAA
9 histone methyltransferase activity (H3-K9 specific) GO:0046974 9.13 SUV39H1 SETDB1 EHMT2
10 alpha-1,4-glucosidase activity GO:0004558 8.8 SI MGAM 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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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