MCID: GLC022
MIFTS: 39

Glucose/galactose Malabsorption

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Metabolic diseases

Aliases & Classifications for Glucose/galactose Malabsorption

MalaCards integrated aliases for Glucose/galactose Malabsorption:

Name: Glucose/galactose Malabsorption 54 13
Glucose-Galactose Malabsorption 50 24 25 56
Ggm 50 25 71
Congenital Glucose-Galactose Malabsorption 29 69
Complex Carbohydrate Intolerance 50 25
Monosaccharide Malabsorption 50 25
Carbohydrate Intolerance 25 69
Carbohydrate Intolerance of Glucose Galactose 50
Glucose Galactose Malabsorption Deficiency 50
Congenital Glucose/galactose Malabsorption 71
Congenital Monosaccharide Malabsorption 69
Sglt1 Deficiency 56

Characteristics:

Orphanet epidemiological data:

56
glucose-galactose malabsorption
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in first days of life
diarrhea persists even with vigorous nursing
may be lethal if untreated
patients gradually develop tolerance to carbohydrates over time
dramatic improvement with proper treatment
high incidence among old order amish


HPO:

32
glucose/galactose malabsorption:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 606824
Orphanet 56 ORPHA35710
UMLS via Orphanet 70 C0268186
ICD10 via Orphanet 34 E74.3
MedGen 40 C0268186

Summaries for Glucose/galactose Malabsorption

NIH Rare Diseases : 50 glucose-galactose malabsorption (ggm) is a genetic condition in which the sugars glucose and galactose cannot be properly absorbed by the body. infants with ggm develop severe diarrhea resulting in life-threatening dehydration, acidosis, and weight loss in the first few weeks of life. ggm is caused by mutations in the slc5a1 gene and is inherited in an autosomal recessive manner. this gene normally makes a special protein which helps the two sugars cross through the cell membranes of the epithelial cells lining the small intestine and special tubes in the kidneys. when the protein is missing, the cells cannot take in the glucose and galactose needed by the body.  diagnosis of glucose-galactose malabsorption (ggm) is made by the early onset of severe diarrhea, ruling out infections, and the improvement of symptoms when glucose and galactose are avoided. the diagnosis can be confirmed by genetic testing. treatment involves a fructose based formula and a continued diet low in foods with glucose and galactose. many children are able to tolerate more glucose and galactose as they near adulthood, although why this happens is not understood. people with ggm (even during infancy and childhood) are at an increased risk of developing kidney stones or more widespread deposits of calcium within the kidneys. last updated: 11/29/2016

MalaCards based summary : Glucose/galactose Malabsorption, also known as glucose-galactose malabsorption, is related to diarrhea 5, with tufting enteropathy, congenital and nephrocalcinosis, and has symptoms including failure to thrive, metabolic acidosis and abdominal distention. An important gene associated with Glucose/galactose Malabsorption is SLC5A1 (Solute Carrier Family 5 Member 1). The drugs Acarbose and Cardiac Glycosides have been mentioned in the context of this disorder. Affiliated tissues include testes, small intestine and kidney.

UniProtKB/Swiss-Prot : 71 Congenital glucose/galactose malabsorption: Intestinal monosaccharide transporter deficiency. It is an autosomal recessive disorder manifesting itself within the first weeks of life. It is characterized by severe diarrhea and dehydration which are usually fatal unless glucose and galactose are eliminated from the diet.

Genetics Home Reference : 25 Glucose-galactose malabsorption is a condition in which the cells lining the intestine cannot take in the sugars glucose and galactose, which prevents proper digestion of these molecules and larger molecules made from them.

OMIM : 54
Glucose/galactose malabsorption (GGM) is a rare autosomal recessive disorder caused by a defect in glucose and galactose transport across the intestinal brush border. Patients with GGM present with neonatal onset of severe life-threatening watery diarrhea and dehydration. If diagnosed and treated properly, patients can fully recover and show normal growth and development (summary by Xin and Wang, 2011). (606824)

Wikipedia : 72 Glucose-galactose malabsorption is a condition in which the cells lining the intestine cannot take in... more...

Related Diseases for Glucose/galactose Malabsorption

Diseases related to Glucose/galactose Malabsorption via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
id Related Disease Score Top Affiliating Genes
1 diarrhea 5, with tufting enteropathy, congenital 11.2
2 nephrocalcinosis 10.2
3 rickets 9.9
4 diabetes insipidus 9.9
5 renal glucosuria 9.9
6 arthritis 9.9
7 nephrolithiasis 9.9
8 renal tubular acidosis 9.9
9 mucositis 9.9
10 glucose intolerance 9.9
11 diarrhea 9.6
12 gonadal dysgenesis 9.6
13 granuloma annulare 9.6
14 liver cirrhosis 9.6
15 acute diarrhea 9.6

Graphical network of the top 20 diseases related to Glucose/galactose Malabsorption:



Diseases related to Glucose/galactose Malabsorption

Symptoms & Phenotypes for Glucose/galactose Malabsorption

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive

Abdomen:
distended abdomen

Laboratory- Abnormalities:
glucosuria, mild, intermittent
abnormal glucose oral tolerance test
glucose breath hydrogen test shows malabsorption of glucose and galactose

Metabolic Features:
metabolic acidosis
hyperosmolar dehydration

Abdomen- Gastroin testinal:
diarrhea, severe, chronic
increased bowel sounds


Clinical features from OMIM:

606824

Human phenotypes related to Glucose/galactose Malabsorption:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 metabolic acidosis 32 HP:0001942
3 abdominal distention 32 HP:0003270
4 chronic diarrhea 32 HP:0002028
5 glycosuria 32 HP:0003076
6 hypertonic dehydration 32 HP:0001986
7 abnormal oral glucose tolerance 32 HP:0004924

Drugs & Therapeutics for Glucose/galactose Malabsorption

Drugs for Glucose/galactose Malabsorption (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
2 Cardiac Glycosides Phase 4
3 Glycoside Hydrolase Inhibitors Phase 4
4 Hypoglycemic Agents Phase 4
5
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
6
Caffeine Approved, Nutraceutical 58-08-2 2519
7 insulin
8 Insulin, Globin Zinc
9 Micronutrients
10 Trace Elements
11 Vitamin B Complex
12 Vitamins
13 Pharmaceutical Solutions
14 Folate Nutraceutical
15
Inositol Investigational, Nutraceutical 87-89-8
16 Vitamin B9 Nutraceutical

Interventional clinical trials:

(show all 12)

id Name Status NCT ID Phase Drugs
1 Lifestyle Intervention to Limit Excessive Weight Gain During Pregnancy in Minority Women Completed NCT01084941 Phase 4
2 Effect of Acarbose on Postprandial Lipoprotein Levels in Glucose Intolerant Patients Completed NCT02355509 Phase 4 Acarbose;Placebo
3 Effect of a Continuous Glucose Monitoring on Maternal and Neonatal Outcomes in Gestational Diabetes Mellitus Not yet recruiting NCT02838147 Phase 3
4 Prevalence of Carbohydrate Intolerance in Lean and Obese Children Unknown status NCT00000112
5 Myo-inositol Administration in Gestational Diabetes Unknown status NCT00734448
6 Carbohydrate Intolerance Questionnaire Study Completed NCT03138902
7 Effects of Diet Selection Based on Genetic Screening on Success to a Weight Loss Program Completed NCT03116711
8 Measuring the Glycemic Index of Pulse Based Breads Completed NCT03015506
9 Prevalence of Carbohydrate Intolerance in Lean and Overweight/Obese Children Recruiting NCT01967849
10 Effect of the CAIPaDi Care Model in Relatives of Patients With Type 2 Diabetes Mellitus Recruiting NCT03234946
11 First Trimester Glycosylated Haemoglobin Und Plasma Glucose in Women at High Risk for Gestational Diabetes Active, not recruiting NCT02139254
12 Association Between Dietary Habits and Gestational Diabetes Not yet recruiting NCT03287297

Search NIH Clinical Center for Glucose/galactose Malabsorption

Genetic Tests for Glucose/galactose Malabsorption

Genetic tests related to Glucose/galactose Malabsorption:

id Genetic test Affiliating Genes
1 Congenital Glucose-Galactose Malabsorption 29
2 Glucose-Galactose Malabsorption 24 SLC5A1

Anatomical Context for Glucose/galactose Malabsorption

MalaCards organs/tissues related to Glucose/galactose Malabsorption:

39
Testes, Small Intestine, Kidney, Breast

Publications for Glucose/galactose Malabsorption

Articles related to Glucose/galactose Malabsorption:

(show top 50) (show all 57)
id Title Authors Year
1
Two Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)2D3a8c. ( 28152538 )
2017
2
Congenital glucose-galactose malabsorption: a descriptive study of clinical characteristics and outcome from Western Saudi Arabia. ( 24630509 )
2014
3
Five Arab children with glucose-galactose malabsorption. ( 23925285 )
2013
4
Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene. ( 22843301 )
2013
5
Structural insights into genetic variants of Na(+)/glucose cotransporter SGLT1 causing glucose-galactose malabsorption: vSGLT as a model structure. ( 22383112 )
2012
6
Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish. ( 20486940 )
2011
7
A case of neonatal diarrhoea caused by congenital glucose-galactose malabsorption. ( 19852331 )
2009
8
Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1. ( 18288487 )
2008
9
Glucose Galactose Malabsorption complicated with Rickets and Nephrogenic Diabetes Insipidus. ( 22359715 )
2008
10
D28G mutation in congenital glucose-galactose malabsorption. ( 17903058 )
2007
11
A novel mutation of Na+/glucose cotransporter in a Turkish newborn with congenital glucose-galactose malabsorption. ( 15795603 )
2005
12
Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis. ( 16010597 )
2005
13
Nephrolithiasis in a child with glucose-galactose malabsorption. ( 14673631 )
2004
14
Neonatal nephrocalcinosis in association with glucose-galactose malabsorption. ( 12734749 )
2003
15
Molecular basis for glucose-galactose malabsorption. ( 12139397 )
2002
16
A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein. ( 11406349 )
2001
17
Congenital glucose galactose malabsorption. ( 11569998 )
2001
18
[Glucose-galactose malabsorption. The first reported case in Denmark]. ( 10402938 )
1999
19
Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects. ( 10036327 )
1999
20
I. Glucose galactose malabsorption. ( 9815014 )
1998
21
Nutrition management of congenital glucose-galactose malabsorption: a case study. ( 9404340 )
1997
22
Glucose-galactose malabsorption: is it an indication to bowel transplantation in childhood? ( 9142306 )
1997
23
Congenital glucose-galactose malabsorption in Arab children. ( 8985845 )
1996
24
Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption. ( 8563765 )
1996
25
Prenatal identification of a heterozygous status in two fetuses at risk for glucose-galactose malabsorption. ( 8844006 )
1996
26
Congenital fructose-glucose-galactose malabsorption. ( 8576823 )
1995
27
Glucose-galactose malabsorption with renal stones in a Saudi child. ( 1280051 )
1992
28
Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. ( 2008213 )
1991
29
Glucose-galactose malabsorption--a report in a Chinese family. ( 2638717 )
1989
30
Glucose-galactose malabsorption: demonstration of specific jejunal brush border membrane defect. ( 3220305 )
1988
31
Diagnosis of congenital glucose-galactose malabsorption by measuring sugar- and amino acid-evoked potential differences in jejunum in vivo. ( 3794908 )
1986
32
Digestion and absorption rates of lactose, glucose, galactose, and fructose in three infants with congenital glucose-galactose malabsorption: perfusion studies. ( 4067776 )
1985
33
Hypernatremic dehydration as a sign leading to the diagnosis of glucose-galactose malabsorption in breast-fed neonates. ( 6544312 )
1984
34
Evidence for participation of mutarotase in sugar transport: absence of the enzyme in a case of glucose galactose malabsorption. ( 7181907 )
1982
35
Interval breath hydrogen test in glucose-galactose malabsorption. ( 7318838 )
1981
36
Absorption of glucose and maltose in congenital glucose-galactose malabsorption. ( 745864 )
1978
37
The glucose-galactose malabsorption syndrome in a 23-year-old woman. ( 1116655 )
1975
38
Congenital glucose-galactose malabsorption. ( 4419703 )
1974
39
Glucose-galactose malabsorption in an adult: perfusion studies of sugar, electrolyte, and water transport. ( 4761524 )
1973
40
Familial glucose-galactose malabsorption: remission of glucose intolerance. ( 4717580 )
1973
41
Quantitative radioautography of sugar transport in intestinal biopsies from normal humans and a patient with glucose-galactose malabsorption. ( 5009124 )
1972
42
Glucose-galactose malabsorption in an Oriental-Iraqui Jewish family. ( 5581590 )
1971
43
Diagnostic problems in glucose-galactose malabsorption. A case report. ( 5442433 )
1970
44
Glucose-galactose malabsorption. A study on the transfer of glucose across the red cell membrane. ( 5457105 )
1970
45
Renal and intestinal hexose transport in familial glucose-galactose malabsorption. ( 5415683 )
1970
46
Glucose-galactose malabsorption. Studies on renal glucosuria. ( 5438804 )
1970
47
Glucose-galactose malabsorption. Studies on the intermediate carbohydrate metabolism. ( 5452305 )
1970
48
Glucose reabsorption in familial renal glycosuria and glucose-galactose malabsorption. ( 5522782 )
1970
49
Glucose-galactose malabsorption complicated by monilial arthritis. ( 5812641 )
1969
50
Glucose-galactose malabsorption. A genetic study. ( 5371329 )
1969

Variations for Glucose/galactose Malabsorption

UniProtKB/Swiss-Prot genetic disease variations for Glucose/galactose Malabsorption:

71
id Symbol AA change Variation ID SNP ID
1 SLC5A1 p.Asp28Asn VAR_007168 rs121912668
2 SLC5A1 p.Asp28Gly VAR_013630 rs121912669
3 SLC5A1 p.Arg135Trp VAR_021502
4 SLC5A1 p.Gly318Arg VAR_021503 rs371505974
5 SLC5A1 p.Ala468Val VAR_021504 rs200406921

ClinVar genetic disease variations for Glucose/galactose Malabsorption:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC5A1 NM_000343.3(SLC5A1): c.82G> A (p.Asp28Asn) single nucleotide variant Pathogenic rs121912668 GRCh37 Chromosome 22, 32439350: 32439350
2 SLC5A1 NM_000343.3(SLC5A1): c.83A> G (p.Asp28Gly) single nucleotide variant Pathogenic rs121912669 GRCh37 Chromosome 22, 32439351: 32439351
3 SLC5A1 NM_000343.3(SLC5A1): c.1673G> A (p.Arg558His) single nucleotide variant Pathogenic rs201799893 GRCh37 Chromosome 22, 32500780: 32500780

Expression for Glucose/galactose Malabsorption

Search GEO for disease gene expression data for Glucose/galactose Malabsorption.

Pathways for Glucose/galactose Malabsorption

GO Terms for Glucose/galactose Malabsorption

Sources for Glucose/galactose Malabsorption

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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