MCID: CRB025
MIFTS: 48

Carbohydrate Metabolic Disorder

Categories: Metabolic diseases

Aliases & Classifications for Carbohydrate Metabolic Disorder

MalaCards integrated aliases for Carbohydrate Metabolic Disorder:

Name: Carbohydrate Metabolic Disorder 12 15
Carbohydrate Metabolism, Inborn Errors 45 74
Disorder of Carbohydrate Metabolism 30 74
Disorder of Carbohydrate Transport and Metabolism 12
Inborn Errors of Carbohydrate Metabolism 12
Inborn Carbohydrate Metabolism Disorder 12
Carbohydrate Metabolism Disorders 44
Carbohydrate Metabolism Disorder 56

Classifications:



External Ids:

Disease Ontology 12 DOID:2978
MeSH 45 D002239
ICD10 34 E74 E74.8

Summaries for Carbohydrate Metabolic Disorder

MedlinePlus : 44 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 carbohydrate metabolism, inborn errors, is related to galactosemia and glycogen storage disease v. An important gene associated with Carbohydrate Metabolic Disorder is INS (Insulin), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Cyclophosphamide and Primaquine have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and bone, and related phenotypes are no effect and homeostasis/metabolism

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 99)
# Related Disease Score Top Affiliating Genes
1 galactosemia 32.3 G6PC GALK1 GALT
2 glycogen storage disease v 30.7 GAA PYGM
3 glycogen storage disease vi 30.7 G6PC PYGM
4 glycogen storage disease due to glucose-6-phosphatase deficiency 30.6 G6PC SLC37A4
5 fanconi-bickel syndrome 30.5 G6PC INS
6 glycogen storage disease iii 30.4 AGL G6PC GAA
7 galactose epimerase deficiency 30.4 GALK1 GALT
8 glycogen storage disease ii 30.4 GAA MGAM PYGM
9 galactokinase deficiency 30.3 GALK1 GALT
10 glycogen storage disease vii 30.2 GBE1 MGAM PYGM
11 glycogen storage disease iv 30.1 AGL G6PC GAA GBE1
12 glycogen storage disease ia 29.9 G6PC GALK1 INS PHKA2 SLC37A4
13 primary hyperoxaluria 29.8 AGXT GRHPR HOGA1
14 glycogen storage disease 29.7 AGL BTD G6PC GAA GBE1 PHKA2
15 fructose-1,6-bisphosphatase deficiency 11.4
16 pyruvate carboxylase deficiency 11.4
17 pyruvate dehydrogenase e1-alpha deficiency 11.4
18 pentosuria 11.3
19 congenital disorder of glycosylation, type in 11.0
20 congenital disorder of deglycosylation 11.0
21 juvenile spinal muscular atrophy 11.0
22 hyperinsulinemic hypoglycemia 11.0
23 glucosephosphate dehydrogenase deficiency 11.0
24 proximal spinal muscular atrophy 11.0
25 mucopolysaccharidosis, type ii 11.0
26 renal glucosuria 10.4
27 epimerase deficiency galactosemia 10.2 GALK1 GALT
28 d-glyceric aciduria 10.2
29 hyperoxaluria, primary, type i 10.2
30 hyperoxaluria, primary, type ii 10.2
31 glycogen storage disease ixb 10.2
32 glycogen storage disease, type ixd 10.2
33 glycerol kinase deficiency 10.2
34 transaldolase deficiency 10.2
35 hyperoxaluria, primary, type iii 10.2
36 carbonic anhydrase va deficiency, hyperammonemia due to 10.2
37 transient neonatal diabetes mellitus 10.2
38 hypoglycemia 10.1 AGL G6PC INS
39 sucrase-isomaltase deficiency, congenital 10.1
40 glycogen storage disease 0, liver 10.1
41 glycogen storage disease x 10.1
42 polyglucosan body neuropathy, adult form 10.1
43 danon disease 10.1
44 phosphoglycerate kinase 1 deficiency 10.1
45 diabetes mellitus, permanent neonatal 10.1
46 glucose/galactose malabsorption 10.1
47 glycogen storage disease 0, muscle 10.1
48 glycogen storage disease xii 10.1
49 trehalase deficiency 10.1
50 glycogen storage disease xiii 10.1

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.9 AGL AGXT ALG6 BTD G6PC GAA

MGI Mouse Phenotypes related to Carbohydrate Metabolic Disorder:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 AGL AGXT BTD G6PC GAA GALK1
2 liver/biliary system MP:0005370 9.76 AGL G6PC GALT GBE1 HOGA1 INS
3 muscle MP:0005369 9.5 AGL BTD GAA GBE1 INS PMM2
4 renal/urinary system MP:0005367 9.28 AGXT BTD G6PC GRHPR HOGA1 INS

Drugs & Therapeutics for Carbohydrate Metabolic Disorder

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

(show top 50) (show all 234)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3 50-18-0, 6055-19-2 2907
2
Primaquine Approved Phase 4,Phase 2,Phase 1,Not Applicable 90-34-6 4908
3
leucovorin Approved Phase 4 58-05-9 143 6006
4
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
5
rituximab Approved Phase 4,Phase 2,Phase 1 174722-31-7 10201696
6
Dapsone Approved, Investigational Phase 4 80-08-0 2955
7
chloroquine Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 54-05-7 2719
8
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Not Applicable 59-30-3 6037
10
Piperaquine Experimental, Investigational Phase 4 4085-31-8 5079497
11
Dihydroartemisinin Experimental, Investigational Phase 4 71939-50-9 6918483
12 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Protective Agents Phase 4,Phase 3,Phase 2,Not Applicable
14
Bilirubin Phase 4 635-65-4, 69853-43-6 21252250 5280352
15 Antioxidants Phase 4,Not Applicable
16 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
17 Immunoglobulins Phase 4,Phase 1,Phase 2,Not Applicable
18 Antibodies Phase 4,Phase 1,Phase 2,Not Applicable
19 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1
20 Antineoplastic Agents, Immunological Phase 4,Phase 2,Phase 1
21 Caseins Phase 4
22 Chelating Agents Phase 4
23 Antiparasitic Agents Phase 4,Phase 2,Phase 1,Not Applicable
24 Antimalarials Phase 4,Phase 2,Phase 1,Not Applicable
25 Artemisinins Phase 4
26 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
27 Artemisinine Phase 4
28 Antiprotozoal Agents Phase 4,Phase 2,Phase 1,Not Applicable
29 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
30 Adrenergic beta-2 Receptor Agonists Phase 4,Phase 1,Phase 2
31 Tocolytic Agents Phase 4,Phase 1,Phase 2
32 Adrenergic Agents Phase 4,Phase 1,Phase 2
33 Adrenergic Agonists Phase 4,Phase 1,Phase 2
34 Adrenergic beta-Agonists Phase 4,Phase 1,Phase 2
35 Respiratory System Agents Phase 4,Phase 1,Phase 2
36 Neurotransmitter Agents Phase 4,Phase 2,Phase 1,Early Phase 1
37 Bronchodilator Agents Phase 4,Phase 1,Phase 2
38 Autonomic Agents Phase 4,Phase 1,Phase 2
39 Albuterol Phase 4,Phase 1,Phase 2
40 Anti-Asthmatic Agents Phase 4,Phase 1,Phase 2
41 Dermatologic Agents Phase 4,Phase 1,Phase 2
42 Antimetabolites, Antineoplastic Phase 4,Phase 1,Phase 2
43 Folic Acid Antagonists Phase 4
44 Vitamin B Complex Phase 4,Phase 2,Not Applicable
45 Vitamin B9 Phase 4,Phase 2,Not Applicable
46 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1
47 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2
48 Folate Phase 4,Phase 2,Not Applicable
49 Antimetabolites Phase 4,Phase 1,Phase 2
50 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 444)
# Name Status NCT ID Phase Drugs
1 Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Unknown status NCT02594904 Phase 4 Yinzhihuang Oral Liquid
2 CPAP for Infantile Pompe Disease Unknown status NCT02405624 Phase 4
3 Incidence of Lactose Intolerance Among Self-reported Lactose Intolerant People Completed NCT02878876 Phase 4
4 Evaluation of LacTEST for the Diagnosis of Hypolactasia in Adults and Elderly Patients Presenting With Clinical Symptoms of Lactose Intolerance Completed NCT02636413 Phase 4 gaxilose
5 Effects Comparison of A1 and A2 Milk on Gastrointestinal Physiology, Symptoms and Cognitive Behavior Completed NCT02406469 Phase 4
6 Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy Completed NCT00607386 Phase 4
7 A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI Completed NCT00299000 Phase 4 Naglazyme
8 Safety and Tolerability of Low Dose Primaquine Completed NCT02434952 Phase 4 Dihydroartemisinin piperaquine (DHA PP);Primaquine
9 Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease Completed NCT02405598 Phase 4 Salbutamol
10 A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00144781 Phase 4
11 A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients Completed NCT00144768 Phase 4 laronidase
12 Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa Completed NCT01288027 Phase 4
13 An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease Completed NCT00701129 Phase 4 Methotrexate;Rituximab
14 High Dose or High Dose Frequency Study of Alglucosidase Alfa Completed NCT00483379 Phase 4
15 Late-Onset Treatment Study Extension Protocol Completed NCT00455195 Phase 4
16 Phase IV Study to Gather More Information About the Safety of ACZONE Gel, 5% in Treating Subjects With Acne Who Have G6PD Deficiency Completed NCT00243542 Phase 4 ACZONE Gel, 5%;Vehicle
17 Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment Recruiting NCT03687333 Phase 4 ALGLUCOSIDASE ALFA (MYOZYME)
18 A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants Recruiting NCT00418821 Phase 4
19 Immune Modulation Therapy for Pompe Disease Recruiting NCT02525172 Phase 4 Rituximab;intravenous immune globulin;Bortezomib;Methotrexate
20 Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Recruiting NCT01410890 Phase 4
21 Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age Active, not recruiting NCT02455622 Phase 4 Elaprase for intravenous (IV) infusion
22 Immune Tolerance Induction Study Active, not recruiting NCT00701701 Phase 4
23 Growth and Development Study of Alglucosidase Alfa. Active, not recruiting NCT00486889 Phase 4
24 Assessing a Risk Model for G6PD Deficiency Suspended NCT03337152 Phase 4 primaquine;chloroquine + primaquine
25 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
26 A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease Terminated NCT01597596 Phase 4
27 A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease Terminated NCT01526785 Phase 4 Alglucosidase alfa
28 A 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
29 Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis Unknown status NCT01238328 Phase 2, Phase 3 Conditioning regimen;Graft-versus-host disease (GVHD) prophylaxis
30 BMN 110 Phase 3B in Australian Patients Unknown status NCT01966029 Phase 3 BMN 110
31 Diet Challenge in G6PD Deficient Egyptian Children: A One- Year Prospective Single Center Study With Genotype - Phenotype Correlation Unknown status NCT02498340 Phase 2, Phase 3
32 Evaluation of Long-term Efficacy of Treatment With Lamazym Completed NCT02478840 Phase 3 Lamazym
33 A Placebo-Controlled Phase 3 Trial of Repeated Lamazym Treatment of Subjects With Alpha-Mannosidosis Completed NCT01681953 Phase 3 Lamazym;Placebo
34 A Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects With MPS 7 Completed NCT02432144 Phase 3 UX003
35 A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7) Completed NCT02230566 Phase 3 UX003
36 A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01275066 Phase 3 BMN 110 Weekly;Placebo;BMN 110 Every Other Week
37 Study of rhASB in Patients With Mucopolysaccharidosis VI Completed NCT00104234 Phase 3 N-acetylgalactosamine 4-sulfatase;Placebo/rhASB
38 Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) Completed NCT00069641 Phase 2, Phase 3
39 Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI Completed NCT00067470 Phase 3 Placebo;N-acetylgalactosamine 4-sulfatase
40 Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3 BMN 110 - Weekly;BMN 110 - Every Other Week
41 Efficacy, Safety, and Tolerability Study of RP-G28 in Subjects With Lactose Intolerance Completed NCT02673749 Phase 2, Phase 3 RP-G28
42 Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I Completed NCT00912925 Phase 3
43 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
44 Phase 2/3 Oxabact Study Completed NCT01037231 Phase 2, Phase 3 Placebo
45 Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00258011 Phase 3
46 Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00146770 Phase 3
47 Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment Completed NCT02055118 Phase 2, Phase 3
48 Study to Evaluate the Efficacy and Safety of OxabactTM on Reduction of Urinary Oxalate in Primary Hyperoxaluria Patients Completed NCT00638703 Phase 2, Phase 3 Placebo
49 A Non-inferiority, Multicenter and Randomized, Multiple-Dose Study About a Treatment to Hypolactasia Completed NCT01145586 Phase 3 Lactase Oral Tablets
50 A Non-inferiority, Multicenter and Randomized, Single-Dose Study About a Treatment to Hypolactasia (LAILAI) Completed NCT01145339 Phase 3 Lactase

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 30

Anatomical Context for Carbohydrate Metabolic Disorder

MalaCards organs/tissues related to Carbohydrate Metabolic Disorder:

42
Testes, Liver, Bone, Kidney, Brain, Bone Marrow, Eye

Publications for Carbohydrate Metabolic Disorder

Articles related to Carbohydrate Metabolic Disorder:

# Title Authors Year
1
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. ( 23819528 )
2013
2
[Disorder of carbohydrate metabolism]. ( 15206146 )
2004
3
[Characteristics of lipid profile in blood plasma of patients with metabolic syndrome and manifest disorder of carbohydrate metabolism]. ( 14669600 )
2003
4
[Carbohydrate metabolic disorder in women with a neuroendocrine syndrome]. ( 8017575 )
1994
5
Autotransplantation of pancreatic tail tissue to prevent carbohydrate metabolic disorder following total pancreatectomy. A case report with preliminary experience. ( 6816515 )
1982

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
1
Show member pathways
13.78 AGL AGXT ALG6 BTD G6PC GAA
2
Show member pathways
12.48 AGL G6PC GAA GALK1 GALT GBE1
3
Show member pathways
12.45 AGL G6PC GAA GBE1 PHKA2 PYGM
4
Show member pathways
11.71 G6PC INS PYGM
5 11.67 G6PC PHKA2 PYGM
6
Show member pathways
11.52 GALK1 GALT PMM2
7
Show member pathways
11.41 AGL G6PC GAA GALK1 GALT GBE1
8 11.3 G6PC LCT MGAM SI SLC37A4
9 11.23 AGL GBE1 PHKA2 PYGM
10 11.09 AGXT GRHPR HOGA1
11 10.53 LCT MGAM SI

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 extracellular exosome GO:0070062 9.23 BTD GAA GALK1 GBE1 GRHPR MGAM

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 9.73 G6PC INS SLC37A4
2 metabolic process GO:0008152 9.73 AGL GAA LCT MGAM PYGM SI
3 glucose metabolic process GO:0006006 9.69 GAA INS SLC37A4
4 glycogen biosynthetic process GO:0005978 9.57 AGL GBE1
5 cellular nitrogen compound metabolic process GO:0034641 9.55 AGXT GRHPR
6 galactose metabolic process GO:0006012 9.54 GALK1 GALT
7 glyoxylate metabolic process GO:0046487 9.54 AGXT GRHPR HOGA1
8 galactose catabolic process GO:0019388 9.52 GALK1 GALT
9 polysaccharide digestion GO:0044245 9.5 LCT MGAM SI
10 glycogen metabolic process GO:0005977 9.5 AGL G6PC GAA GBE1 PHKA2 PYGM
11 glucose-6-phosphate transport GO:0015760 9.49 G6PC SLC37A4
12 pyruvate biosynthetic process GO:0042866 9.48 AGXT HOGA1
13 galactose catabolic process via UDP-galactose GO:0033499 9.46 GALK1 GALT
14 glycogen catabolic process GO:0005980 9.46 AGL G6PC GAA PYGM
15 glyoxylate catabolic process GO:0009436 9.43 AGXT HOGA1
16 maltose metabolic process GO:0000023 9.4 GAA MGAM
17 carbohydrate metabolic process GO:0005975 9.32 GAA GALK1 GALT GBE1 INS LCT

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.73 GAA LCT MGAM PYGM
2 transferase activity, transferring glycosyl groups GO:0016757 9.71 AGL ALG6 GBE1 PYGM
3 carbohydrate binding GO:0030246 9.67 AGL GAA MGAM SI
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.55 AGL GAA LCT MGAM SI
5 phosphotransferase activity, alcohol group as acceptor GO:0016773 9.48 G6PC GALK1
6 alpha-glucosidase activity GO:0090599 9.32 GAA MGAM
7 maltose alpha-glucosidase activity GO:0032450 9.26 GAA MGAM
8 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.02 GAA GBE1 LCT MGAM SI
9 alpha-1,4-glucosidase activity GO:0004558 8.96 GAA MGAM
10 transferase activity GO:0016740 10.04 AGL AGXT ALG6 GALK1 GALT GBE1
11 hydrolase activity GO:0016787 10 AGL BTD G6PC GAA LCT MGAM

Sources for Carbohydrate Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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