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Carbohydrate metabolism disease

MedGen UID:: 472889
•Concept ID:: C0149670
•: Disease or Syndrome

Synonym:	Disorder of carbohydrate metabolism
SNOMED CT:	Disorder of carbohydrate metabolism (20957000)

Monarch Initiative:	MONDO:0037792

Definition

An inherited or acquired disorder that affects the metabolism of the carbohydrates. Representative examples include diabetes mellitus, glycogen storage disease, mucopolysaccharidoses, and lactose intolerance. [from NCI]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCarbohydrate metabolism disease

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Non-Neoplastic Disorder
      - Non-Neoplastic Disorder by Special Category
        Metabolic disease
        Carbohydrate metabolism disease
        Carbohydrate transport disease
        Congenital disorder of glycosylation
        ALG1-congenital disorder of glycosylation
        ALG11-congenital disorder of glycosylation
        ALG12-congenital disorder of glycosylation
        ALG2-congenital disorder of glycosylation
        ALG3-congenital disorder of glycosylation
        ALG6-congenital disorder of glycosylation 1C
        ALG8 congenital disorder of glycosylation
        ALG9 congenital disorder of glycosylation
        B4GALT1-congenital disorder of glycosylation
        COG1 congenital disorder of glycosylation
        COG4-congenital disorder of glycosylation
        COG5-congenital disorder of glycosylation
        COG6-congenital disorder of glycosylation
        COG7 congenital disorder of glycosylation
        COG8-congenital disorder of glycosylation
        Congenital disorder of deglycosylation
        Congenital disorder of deglycosylation 1
        Congenital disorder of deglycosylation 2
        Congenital disorder of glycosylation type 1E
        Congenital muscular dystrophy with intellectual disability and severe epilepsy
        Developmental and epileptic encephalopathy, 36
        DK1-congenital disorder of glycosylation
        DPAGT1-congenital disorder of glycosylation
        DPM3-congenital disorder of glycosylation
        Leukocyte adhesion deficiency type II
        MGAT2-congenital disorder of glycosylation
        MOGS-congenital disorder of glycosylation
        MPDU1-congenital disorder of glycosylation
        MPI-congenital disorder of glycosylation
        PGM1-congenital disorder of glycosylation
        PMM2-congenital disorder of glycosylation
        RFT1-congenital disorder of glycosylation
        SLC35A1-congenital disorder of glycosylation
        SRD5A3-congenital disorder of glycosylation
        Galactosemia
        Deficiency of galactokinase
        Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
        Galactosemia 4
        Transferase Deficiency Galactosemia
        UDPglucose-4-epimerase deficiency
        Erythrocyte galactose epimerase deficiency
        Generalized galactose epimerase deficiency
        Glucose metabolism disease
        Diabetes mellitus
        Childhood Diabetes Mellitus
        Complication due to diabetes mellitus
        Diabetes mellitus type 1
        Diabetes mellitus without complication
        Gestational diabetes
        Latent autoimmune diabetes in adults
        Leprechaunism syndrome
        Lipoatrophic diabetes
        Maturity onset diabetes mellitus in young
        Mitochondrial Diabetes
        Monogenic diabetes
        New Onset Diabetes After Transplant
        Pre-Gestational Diabetes
        Prediabetes syndrome
        Type 2 diabetes mellitus
        Glucose intolerance
        Impaired glucose tolerance
        Glycosuria
        Familial renal glucosuria
        Hyperglycemia
        Impaired fasting glucose
        Neonatal hyperglycemia
        Postprandial hyperglycemia
        Hyperinsulinemia
        Familial hyperinsulinism
        Fasting hyperinsulinemia
        Hyperinsulinemic hypoglycemia
        Insulin resistance
        Hypoglycemia
        Fasting hypoglycemia
        Hypoketotic hypoglycemia
        Insulin coma
        Ketotic hypoglycemia
        Neonatal hypoglycemia
        Nonketotic hypoglycemia
        Reactive hypoglycemia
        Recurrent hypoglycemia
        Glycerol metabolism disease
        Inborn carbohydrate metabolic disorder
        Fructose Metabolism, Inborn Errors
        Fructose-biphosphatase deficiency
        Hereditary fructosuria
        Fucosidosis
        G6PD deficiency
        Favism
        Glycogen storage disease
        Danon disease
        Fanconi-Bickel syndrome
        Glycogen phosphorylase kinase deficiency
        Glycogen storage disease due to lactate dehydrogenase deficiency
        Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
        Glycogen storage disease due to muscle beta-enolase deficiency
        Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
        Glycogen storage disease type III
        Glycogen storage disease type VIII
        Glycogen storage disease type X
        Glycogen storage disease XV
        Glycogen storage disease, type I
        Glycogen storage disease, type II
        Glycogen storage disease, type IV
        Glycogen storage disease, type V
        Glycogen storage disease, type VI
        Glycogen storage disease, type VII
        HNSHA due to aldolase A deficiency
        Lethal congenital glycogen storage disease of heart
        Polyglucosan body myopathy type 1
        Polyglucosan body myopathy type 2
        Inborn error of pyruvate metabolism
        Leigh disease
        Pyruvate carboxylase deficiency
        Pyruvate dehydrogenase complex deficiency
        Lactose intolerance
        Mannosidosis
        Beta-D-mannosidosis
        Deficiency of alpha-mannosidase
        Mucolipidosis
        Deficiency of N-acetylglucosamine-1-phosphotransferase
        GNPTG-mucolipidosis
        Mucolipidosis type II
        Mucolipidosis Type IIIA
        Mucolipidosis type IV
        Sialidosis
        Mucopolysaccharidosis
        Deficiency of hyaluronoglucosaminidase
        Morquio syndrome
        Mucopolysaccharidosis type 1
        Mucopolysaccharidosis type 6
        Mucopolysaccharidosis type 7
        Mucopolysaccharidosis, MPS-II
        Sanfilippo syndrome
        Multiple carboxylase deficiency
        Biotinidase deficiency
        Holocarboxylase synthetase deficiency
        Primary hyperoxaluria
        Primary hyperoxaluria type 3
        Primary hyperoxaluria, type I
        Primary hyperoxaluria, type II
        Intestinal disaccharidase deficiency
        Phosphoenolpyruvate carboxykinase (GTP) deficiency

Follow this link to review classifications for Carbohydrate metabolism disease in Orphanet.

Professional guidelines

PubMed

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.

Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524 Free PMC Article

Obesity in adults: a clinical practice guideline.

Wharton S, Lau DCW, Vallis M, Sharma AM, Biertho L, Campbell-Scherer D, Adamo K, Alberga A, Bell R, Boulé N, Boyling E, Brown J, Calam B, Clarke C, Crowshoe L, Divalentino D, Forhan M, Freedhoff Y, Gagner M, Glazer S, Grand C, Green M, Hahn M, Hawa R, Henderson R, Hong D, Hung P, Janssen I, Jacklin K, Johnson-Stoklossa C, Kemp A, Kirk S, Kuk J, Langlois MF, Lear S, McInnes A, Macklin D, Naji L, Manjoo P, Morin MP, Nerenberg K, Patton I, Pedersen S, Pereira L, Piccinini-Vallis H, Poddar M, Poirier P, Prud'homme D, Salas XR, Rueda-Clausen C, Russell-Mayhew S, Shiau J, Sherifali D, Sievenpiper J, Sockalingam S, Taylor V, Toth E, Twells L, Tytus R, Walji S, Walker L, Wicklum S
CMAJ 2020 Aug 4;192(31):E875-E891. doi: 10.1503/cmaj.191707. PMID: 32753461 Free PMC Article

Expert consensus document: The International Scientific Association for Probiotics and Prebiotics (ISAPP) consensus statement on the definition and scope of prebiotics.

Gibson GR, Hutkins R, Sanders ME, Prescott SL, Reimer RA, Salminen SJ, Scott K, Stanton C, Swanson KS, Cani PD, Verbeke K, Reid G
Nat Rev Gastroenterol Hepatol 2017 Aug;14(8):491-502. Epub 2017 Jun 14 doi: 10.1038/nrgastro.2017.75. PMID: 28611480

See all (563)

Recent clinical studies

Etiology

Short chain fatty acids in human gut and metabolic health.

Blaak EE, Canfora EE, Theis S, Frost G, Groen AK, Mithieux G, Nauta A, Scott K, Stahl B, van Harsselaar J, van Tol R, Vaughan EE, Verbeke K
Benef Microbes 2020 Sep 1;11(5):411-455. Epub 2020 Aug 31 doi: 10.3920/BM2020.0057. PMID: 32865024

Melatonin Effects on Glucose Metabolism: Time To Unlock the Controversy.

Garaulet M, Qian J, Florez JC, Arendt J, Saxena R, Scheer FAJL
Trends Endocrinol Metab 2020 Mar;31(3):192-204. Epub 2020 Jan 1 doi: 10.1016/j.tem.2019.11.011. PMID: 31901302 Free PMC Article

Associations Among Lactation, Maternal Carbohydrate Metabolism, and Cardiovascular Health.

Stuebe A
Clin Obstet Gynecol 2015 Dec;58(4):827-39. doi: 10.1097/GRF.0000000000000155. PMID: 26457850 Free PMC Article

Steroid-induced diabetes: a clinical and molecular approach to understanding and treatment.

Hwang JL, Weiss RE
Diabetes Metab Res Rev 2014 Feb;30(2):96-102. doi: 10.1002/dmrr.2486. PMID: 24123849 Free PMC Article

Pregnancy in diabetes.

Ryan EA
Med Clin North Am 1998 Jul;82(4):823-45. doi: 10.1016/s0025-7125(05)70026-2. PMID: 9706123

See all (6183)

Diagnosis

Gut microbial carbohydrate metabolism contributes to insulin resistance.

Takeuchi T, Kubota T, Nakanishi Y, Tsugawa H, Suda W, Kwon AT, Yazaki J, Ikeda K, Nemoto S, Mochizuki Y, Kitami T, Yugi K, Mizuno Y, Yamamichi N, Yamazaki T, Takamoto I, Kubota N, Kadowaki T, Arner E, Carninci P, Ohara O, Arita M, Hattori M, Koyasu S, Ohno H
Nature 2023 Sep;621(7978):389-395. Epub 2023 Aug 30 doi: 10.1038/s41586-023-06466-x. PMID: 37648852 Free PMC Article

The Interplay Between Bone and Glucose Metabolism.

Cipriani C, Colangelo L, Santori R, Renella M, Mastrantonio M, Minisola S, Pepe J
Front Endocrinol (Lausanne) 2020;11:122. Epub 2020 Mar 24 doi: 10.3389/fendo.2020.00122. PMID: 32265831 Free PMC Article

Carbohydrate Maldigestion and Malabsorption.

Omer A, Quigley EMM
Clin Gastroenterol Hepatol 2018 Aug;16(8):1197-1199. Epub 2018 Feb 6 doi: 10.1016/j.cgh.2018.01.048. PMID: 29425782

Exercise and Regulation of Carbohydrate Metabolism.

Mul JD, Stanford KI, Hirshman MF, Goodyear LJ
Prog Mol Biol Transl Sci 2015;135:17-37. Epub 2015 Aug 20 doi: 10.1016/bs.pmbts.2015.07.020. PMID: 26477909 Free PMC Article

Steroid-induced diabetes: a clinical and molecular approach to understanding and treatment.

Hwang JL, Weiss RE
Diabetes Metab Res Rev 2014 Feb;30(2):96-102. doi: 10.1002/dmrr.2486. PMID: 24123849 Free PMC Article

See all (4722)

Therapy

Inositol is an effective and safe treatment in polycystic ovary syndrome: a systematic review and meta-analysis of randomized controlled trials.

Greff D, Juhász AE, Váncsa S, Váradi A, Sipos Z, Szinte J, Park S, Hegyi P, Nyirády P, Ács N, Várbíró S, Horváth EM
Reprod Biol Endocrinol 2023 Jan 26;21(1):10. doi: 10.1186/s12958-023-01055-z. PMID: 36703143 Free PMC Article

Fermented Foods: Definitions and Characteristics, Impact on the Gut Microbiota and Effects on Gastrointestinal Health and Disease.

Dimidi E, Cox SR, Rossi M, Whelan K
Nutrients 2019 Aug 5;11(8) doi: 10.3390/nu11081806. PMID: 31387262 Free PMC Article

Glycosylation in the Era of Cancer-Targeted Therapy: Where Are We Heading?

Mereiter S, Balmaña M, Campos D, Gomes J, Reis CA
Cancer Cell 2019 Jul 8;36(1):6-16. doi: 10.1016/j.ccell.2019.06.006. PMID: 31287993

Galactose metabolism and health.

Coelho AI, Berry GT, Rubio-Gozalbo ME
Curr Opin Clin Nutr Metab Care 2015 Jul;18(4):422-7. doi: 10.1097/MCO.0000000000000189. PMID: 26001656

Congenital neutropenia.

Klein C
Hematology Am Soc Hematol Educ Program 2009:344-50. doi: 10.1182/asheducation-2009.1.344. PMID: 20008220

See all (4539)

Prognosis

Premature cardiovascular deaths.

Marais AD, Blom DJ, Raal FJ
S Afr Med J 2023 Jun 21;113(7):6-7. PMID: 37882038

m6A-regulated tumor glycolysis: new advances in epigenetics and metabolism.

Yue SW, Liu HL, Su HF, Luo C, Liang HF, Zhang BX, Zhang W
Mol Cancer 2023 Aug 15;22(1):137. doi: 10.1186/s12943-023-01841-8. PMID: 37582735 Free PMC Article

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725

Gain-of-glycosylation mutations.

Vogt G, Vogt B, Chuzhanova N, Julenius K, Cooper DN, Casanova JL
Curr Opin Genet Dev 2007 Jun;17(3):245-51. Epub 2007 Apr 30 doi: 10.1016/j.gde.2007.04.008. PMID: 17467977

Generalized lipodystrophy.

Seip M
Ergeb Inn Med Kinderheilkd 1971;31:59-95. doi: 10.1007/978-3-642-65213-4_2. PMID: 4933543

See all (3085)

Clinical prediction guides

Glycolysis Reprogramming in Idiopathic Pulmonary Fibrosis: Unveiling the Mystery of Lactate in the Lung.

Yan P, Liu J, Li Z, Wang J, Zhu Z, Wang L, Yu G
Int J Mol Sci 2023 Dec 25;25(1) doi: 10.3390/ijms25010315. PMID: 38203486 Free PMC Article

N-Glycosylation and Inflammation; the Not-So-Sweet Relation.

Radovani B, Gudelj I
Front Immunol 2022;13:893365. Epub 2022 Jun 27 doi: 10.3389/fimmu.2022.893365. PMID: 35833138 Free PMC Article

Mechanisms of metabolic dysfunction in cancer-associated cachexia.

Petruzzelli M, Wagner EF
Genes Dev 2016 Mar 1;30(5):489-501. doi: 10.1101/gad.276733.115. PMID: 26944676 Free PMC Article

Review article: the role of butyrate on colonic function.

Hamer HM, Jonkers D, Venema K, Vanhoutvin S, Troost FJ, Brummer RJ
Aliment Pharmacol Ther 2008 Jan 15;27(2):104-19. Epub 2007 Oct 25 doi: 10.1111/j.1365-2036.2007.03562.x. PMID: 17973645

Gain-of-glycosylation mutations.

Vogt G, Vogt B, Chuzhanova N, Julenius K, Cooper DN, Casanova JL
Curr Opin Genet Dev 2007 Jun;17(3):245-51. Epub 2007 Apr 30 doi: 10.1016/j.gde.2007.04.008. PMID: 17467977

See all (4896)

Recent systematic reviews

Efficacy of Different Dietary Patterns in the Treatment of Functional Gastrointestinal Disorders in Children and Adolescents: A Systematic Review of Intervention Studies.

Katsagoni CN, Karagianni VM, Papadopoulou A
Nutrients 2023 Jun 10;15(12) doi: 10.3390/nu15122708. PMID: 37375612 Free PMC Article

Inositol is an effective and safe treatment in polycystic ovary syndrome: a systematic review and meta-analysis of randomized controlled trials.

Effect of low glycaemic index or load dietary patterns on glycaemic control and cardiometabolic risk factors in diabetes: systematic review and meta-analysis of randomised controlled trials.

Chiavaroli L, Lee D, Ahmed A, Cheung A, Khan TA, Blanco S, Mejia, Mirrahimi A, Jenkins DJA, Livesey G, Wolever TMS, Rahelić D, Kahleová H, Salas-Salvadó J, Kendall CWC, Sievenpiper JL
BMJ 2021 Aug 4;374:n1651. doi: 10.1136/bmj.n1651. PMID: 34348965 Free PMC Article

The Gut Microbiome, Aging, and Longevity: A Systematic Review.

Badal VD, Vaccariello ED, Murray ER, Yu KE, Knight R, Jeste DV, Nguyen TT
Nutrients 2020 Dec 7;12(12) doi: 10.3390/nu12123759. PMID: 33297486 Free PMC Article

Prevention of Type 2 Diabetes by Lifestyle Changes: A Systematic Review and Meta-Analysis.

Uusitupa M, Khan TA, Viguiliouk E, Kahleova H, Rivellese AA, Hermansen K, Pfeiffer A, Thanopoulou A, Salas-Salvadó J, Schwab U, Sievenpiper JL
Nutrients 2019 Nov 1;11(11) doi: 10.3390/nu11112611. PMID: 31683759 Free PMC Article

See all (157)

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Carbohydrate metabolism disease

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

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