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Inborn carbohydrate metabolic disorder

MedGen UID:: 2825
•Concept ID:: C0007001
•: Disease or Syndrome

Synonyms:	Carbohydrate Metabolism, Inborn Error; Carbohydrate Metabolism, Inborn Errors

Monarch Initiative:	MONDO:0019214
Orphanet:	ORPHA79161

Definition

An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCarbohydrate metabolism disease
- CROGVCarbohydrate transport disease
- CROGVGlycerol metabolism disease
- CROGVInborn carbohydrate metabolic disorder
- CROGVIntestinal disaccharidase deficiency

Pathological process
- Disease
  - Non-Neoplastic Disorder
    - Non-Neoplastic Disorder by Special Category
      - Metabolic disease
        Carbohydrate metabolism disease
        Inborn carbohydrate metabolic disorder
        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-ongenital 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
        Fructose Metabolism, Inborn Errors
        Fructose-biphosphatase deficiency
        Hereditary fructosuria
        Fucosidosis
        G6PD deficiency
        Favism
        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
        Glycogen storage disease
        Danon disease
        Fanconi-Bickel syndrome
        Glycogen phosphorylase kinase deficiency
        Glycogen storage disease due to liver phosphorylase kinase deficiency
        Glycogen storage disease IXa1
        Glycogen storage disease IXb
        Glycogen storage disease IXc
        Glycogen storage disease IXd
        Glycogen storage disease due to lactate dehydrogenase deficiency
        Glycogen storage disease due to lactate dehydrogenase H-subunit 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 IIIa
        Glycogen storage disease IIIb
        Glycogen storage disease IIIc
        Glycogen storage disease IIId
        Glycogen storage disease type VIII
        Glycogen storage disease type X
        Glycogen storage disease XV
        Glycogen storage disease, type I
        Glucose-6-phosphate transport defect
        Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
        Phosphate transport defect
        Glycogen storage disease, type II
        Glycogen storage disease due to acid maltase deficiency, infantile onset
        Glycogen storage disease due to acid maltase deficiency, late-onset
        Glycogen storage disease type II, infantile
        Glycogen storage disease, type IV
        Adult polyglucosan body disease
        Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
        Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
        Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
        Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
        Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
        Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
        Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
        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 1 with immunodeficiency
        Polyglucosan body myopathy 1 without immunodeficiency
        Polyglucosan body myopathy type 2
        Inborn error of pyruvate metabolism
        Leigh syndrome
        Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
        Congenital myasthenic syndrome 16
        Leigh Syndrome (nuclear DNA mutation)
        Leigh syndrome due to mitochondrial complex I deficiency
        Leigh syndrome due to mitochondrial complex II deficiency
        Leigh syndrome due to mitochondrial complex III deficiency
        Leigh syndrome due to mitochondrial complex V deficiency
        Leigh syndrome with cardiomyopathy
        Leigh syndrome with leukodystrophy
        Leigh syndrome with nephrotic syndrome
        Maternally-inherited Leigh syndrome
        Necrotizing encephalomyelopathy, subacute, of Leigh, adult
        Pyruvate carboxylase deficiency
        Pyruvate dehydrogenase complex deficiency
        Lactose intolerance
        Mannosidosis
        Beta-D-mannosidosis
        Deficiency of alpha-mannosidase
        Alpha mannosidosis type II
        Mucolipidosis
        Deficiency of N-acetylglucosamine-1-phosphotransferase
        GNPTG-mucolipidosis
        Mucolipidosis type II
        Mucolipidosis Type IIIA
        Mucolipidosis type IV
        Sialidosis
        Sialidosis type 1
        Sialidosis type 2
        Mucopolysaccharidosis
        Deficiency of hyaluronoglucosaminidase
        Morquio syndrome
        Mucopolysaccharidosis, MPS-IV-A
        Mucopolysaccharidosis, MPS-IV-B
        Mucopolysaccharidosis type 1
        Hurler syndrome
        Mucopolysaccharidosis, MPS-I-H/S
        Mucopolysaccharidosis, MPS-I-S
        Mucopolysaccharidosis type 6
        Mucopolysaccharidosis type 6, rapidly progressing
        Mucopolysaccharidosis type 6, slowly progressing
        Mucopolysaccharidosis type 7
        Mucopolysaccharidosis, MPS-II
        Mucopolysaccharidosis type 2, attenuated form
        Mucopolysaccharidosis type 2, severe form
        Sanfilippo syndrome
        Mucopolysaccharidosis, MPS-III-A
        Mucopolysaccharidosis, MPS-III-B
        Mucopolysaccharidosis, MPS-III-C
        Mucopolysaccharidosis, MPS-III-D
        Multiple carboxylase deficiency
        Biotinidase deficiency
        Holocarboxylase synthetase deficiency
        Primary hyperoxaluria
        Primary hyperoxaluria type 3
        Primary hyperoxaluria, type I
        Primary hyperoxaluria, type II

Professional guidelines

PubMed

The Importance of Neonatal Screening for Galactosemia.

Badiu Tișa I, Achim AC, Cozma-Petruț A
Nutrients 2022 Dec 20;15(1) doi: 10.3390/nu15010010. PMID: 36615667 Free PMC Article

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

X-linked adrenoleukodystrophy: pathogenesis and treatment.

Engelen M, Kemp S, Poll-The BT
Curr Neurol Neurosci Rep 2014 Oct;14(10):486. doi: 10.1007/s11910-014-0486-0. PMID: 25115486

See all (171)

Recent clinical studies

Etiology

Glycogen storage diseases: An update.

Gümüş E, Özen H
World J Gastroenterol 2023 Jul 7;29(25):3932-3963. doi: 10.3748/wjg.v29.i25.3932. PMID: 37476587 Free PMC Article

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.

Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E
J Inherit Metab Dis 2021 Jan;44(1):148-163. Epub 2020 Sep 15 doi: 10.1002/jimd.12286. PMID: 32681750 Free PMC Article

Genetic mimics of cerebral palsy.

Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345

Metabolic pathways at the crossroads of diabetes and inborn errors.

Goetzman ES, Gong Z, Schiff M, Wang Y, Muzumdar RH
J Inherit Metab Dis 2018 Jan;41(1):5-17. Epub 2017 Sep 26 doi: 10.1007/s10545-017-0091-x. PMID: 28952033 Free PMC Article

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.

Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet)
J Inherit Metab Dis 2017 Mar;40(2):171-176. Epub 2016 Nov 17 doi: 10.1007/s10545-016-9990-5. PMID: 27858262 Free PMC Article

See all (640)

Diagnosis

Glycogen storage diseases: An update.

Gümüş E, Özen H
World J Gastroenterol 2023 Jul 7;29(25):3932-3963. doi: 10.3748/wjg.v29.i25.3932. PMID: 37476587 Free PMC Article

The Importance of Neonatal Screening for Galactosemia.

Badiu Tișa I, Achim AC, Cozma-Petruț A
Nutrients 2022 Dec 20;15(1) doi: 10.3390/nu15010010. PMID: 36615667 Free PMC Article

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.

Genetic mimics of cerebral palsy.

Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345

Lactose intolerance.

Vandenplas Y
Asia Pac J Clin Nutr 2015;24 Suppl 1:S9-13. doi: 10.6133/apjcn.2015.24.s1.02. PMID: 26715083

See all (1432)

Therapy

Sitosterolemia.

Tada H, Kojima N, Takamura M, Kawashiri MA
Adv Clin Chem 2022;110:145-169. Epub 2022 Aug 9 doi: 10.1016/bs.acc.2022.06.006. PMID: 36210074

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.

GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.

Leal AF, Benincore-Flórez E, Solano-Galarza D, Garzón Jaramillo RG, Echeverri-Peña OY, Suarez DA, Alméciga-Díaz CJ, Espejo-Mojica AJ
Int J Mol Sci 2020 Aug 27;21(17) doi: 10.3390/ijms21176213. PMID: 32867370 Free PMC Article

Lactose intolerance.

Vandenplas Y
Asia Pac J Clin Nutr 2015;24 Suppl 1:S9-13. doi: 10.6133/apjcn.2015.24.s1.02. PMID: 26715083

Carbohydrate intake.

Leturque A, Brot-Laroche E, Le Gall M
Prog Mol Biol Transl Sci 2012;108:113-27. doi: 10.1016/B978-0-12-398397-8.00005-8. PMID: 22656375

See all (688)

Prognosis

Glycogen storage diseases: An update.

Gümüş E, Özen H
World J Gastroenterol 2023 Jul 7;29(25):3932-3963. doi: 10.3748/wjg.v29.i25.3932. PMID: 37476587 Free PMC Article

The Importance of Neonatal Screening for Galactosemia.

Badiu Tișa I, Achim AC, Cozma-Petruț A
Nutrients 2022 Dec 20;15(1) doi: 10.3390/nu15010010. PMID: 36615667 Free PMC Article

Sitosterolemia.

Tada H, Kojima N, Takamura M, Kawashiri MA
Adv Clin Chem 2022;110:145-169. Epub 2022 Aug 9 doi: 10.1016/bs.acc.2022.06.006. PMID: 36210074

Genetic mimics of cerebral palsy.

Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345

Crystal structure of the human glucose transporter GLUT1.

Deng D, Xu C, Sun P, Wu J, Yan C, Hu M, Yan N
Nature 2014 Jun 5;510(7503):121-5. Epub 2014 May 18 doi: 10.1038/nature13306. PMID: 24847886

See all (331)

Clinical prediction guides

New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.

Spiewak J, Doykov I, Papandreou A, Hällqvist J, Mills P, Clayton PT, Gissen P, Mills K, Heywood WE
Int J Mol Sci 2023 Jun 15;24(12) doi: 10.3390/ijms241210177. PMID: 37373322 Free PMC Article

Features of chinese patients with sitosterolemia.

Zhou Z, Su X, Cai Y, Ting TH, Zhang W, Lin Y, Xu A, Mao X, Zeng C, Liu L, Li X
Lipids Health Dis 2022 Jan 18;21(1):11. doi: 10.1186/s12944-021-01619-1. PMID: 35042526 Free PMC Article

Metabolic pathways at the crossroads of diabetes and inborn errors.

Goetzman ES, Gong Z, Schiff M, Wang Y, Muzumdar RH
J Inherit Metab Dis 2018 Jan;41(1):5-17. Epub 2017 Sep 26 doi: 10.1007/s10545-017-0091-x. PMID: 28952033 Free PMC Article

Carnitine supplementation for inborn errors of metabolism.

Nasser M, Javaheri H, Fedorowicz Z, Noorani Z
Cochrane Database Syst Rev 2012 Feb 15;2012(2):CD006659. doi: 10.1002/14651858.CD006659.pub3. PMID: 22336821 Free PMC Article

Serine-deficiency syndromes.

de Koning TJ, Klomp LW
Curr Opin Neurol 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. PMID: 15021249

See all (504)

Recent systematic reviews

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.

Conte F, Sam JE, Lefeber DJ, Passier R
Int J Mol Sci 2023 May 11;24(10) doi: 10.3390/ijms24108632. PMID: 37239976 Free PMC Article

Psychiatric manifestations of inborn errors of metabolism: A systematic review.

van de Burgt N, van Doesum W, Grevink M, van Niele S, de Koning T, Leibold N, Martinez-Martinez P, van Amelsvoort T, Cath D
Neurosci Biobehav Rev 2023 Jan;144:104970. Epub 2022 Nov 25 doi: 10.1016/j.neubiorev.2022.104970. PMID: 36436739

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.

Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.

Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2016 Mar 4;3:CD009806. doi: 10.1002/14651858.CD009806.pub2. PMID: 26943923

Carnitine supplementation for inborn errors of metabolism.

Nasser M, Javaheri H, Fedorowicz Z, Noorani Z
Cochrane Database Syst Rev 2012 Feb 15;2012(2):CD006659. doi: 10.1002/14651858.CD006659.pub3. PMID: 22336821 Free PMC Article

See all (18)

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Inborn carbohydrate metabolic disorder

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

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