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Congenital glucose-galactose malabsorption(GGM)

MedGen UID:
78647
Concept ID:
C0268186
Congenital Abnormality; Disease or Syndrome
Synonyms: Carbohydrate intolerance of glucose galactose; Complex carbohydrate intolerance; GGM; Glucose galactose malabsorption deficiency; Glucose-Galactose Malabsorption; Monosaccharide malabsorption
SNOMED CT: Glucose-galactose malabsorption (190749000); Congenital glucose-galactose malabsorption (27943000); Congenital glucose-galactose intolerance (27943000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SLC5A1 (22q12.3)
 
Monarch Initiative: MONDO:0011731
OMIM®: 606824
Orphanet: ORPHA35710

Definition

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). [from OMIM]

Additional description

From MedlinePlus Genetics
Glucose-galactose malabsorption is a condition in which the body cannot take in (absorb) the sugars glucose and galactose, which primarily results in severe diarrhea. Beginning in infancy, severe diarrhea results in weight loss and dehydration that can be life-threatening. Small amounts of the simple sugar glucose in the urine (mild glucosuria) may occur in this disorder. Rarely, affected infants develop kidney stones due to deposits of calcium in the kidneys (nephrocalcinosis).

The signs and symptoms of glucose-galactose malabsorption appear early in life when affected infants are fed breast milk or regular infant formulas. These foods contain glucose, galactose, and another sugar called lactose that gets broken down into these two sugars. When these sugar-containing foods are ingested by affected individuals, it leads to diarrhea and other health problems. If foods that contain glucose, galactose, and lactose are removed from the diet, the diarrhea stops.  https://medlineplus.gov/genetics/condition/glucose-galactose-malabsorption

Clinical features

From HPO
Glycosuria
MedGen UID:
42267
Concept ID:
C0017979
Finding
An increased concentration of glucose in the urine.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Hyperactive bowel sounds
MedGen UID:
534742
Concept ID:
C0232694
Finding
Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.
Chronic diarrhea
MedGen UID:
96036
Concept ID:
C0401151
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Malabsorption
MedGen UID:
811453
Concept ID:
C3714745
Finding
Impaired ability to absorb one or more nutrients from the intestine.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Hypertonic dehydration
MedGen UID:
205119
Concept ID:
C1112601
Disease or Syndrome
Abnormal oral glucose tolerance
MedGen UID:
339758
Concept ID:
C1847425
Finding
An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital glucose-galactose malabsorption
Follow this link to review classifications for Congenital glucose-galactose malabsorption in Orphanet.

Recent clinical studies

Etiology

Hu L, Yang L, Yan K, Wu B, Wang H, Zhang R, Wang J, Cao Y, Cheng G, Zhou W
Neonatology 2022;119(1):103-110. Epub 2021 Nov 19 doi: 10.1159/000519634. PMID: 34802008
Saadah OI, Alghamdi SA, Sindi HH, Alhunaitti H, Bin-Taleb YY, Alhussaini BH
Arab J Gastroenterol 2014 Mar;15(1):21-3. Epub 2014 Feb 1 doi: 10.1016/j.ajg.2014.01.004. PMID: 24630509
Lee WS, Boey CC
J Paediatr Child Health 1999 Jun;35(3):260-3. doi: 10.1046/j.1440-1754.1999.00356.x. PMID: 10404446
Lifschitz CH, Boutton TW, Carrazza F, Beyreiss K, Schmitz J, Ricour C, Shulman R, Nichols BL
J Pediatr Gastroenterol Nutr 1988 Nov-Dec;7(6):842-7. doi: 10.1097/00005176-198811000-00008. PMID: 3143819

Diagnosis

Prasad BS, Yachha SK
Indian Pediatr 2022 Oct 15;59(10):811-812. PMID: 36263498
Wang W, Wang L, Ma M
J Paediatr Child Health 2020 Nov;56(11):1779-1784. Epub 2020 Sep 18 doi: 10.1111/jpc.14702. PMID: 32946683
Al-Suyufi Y, ALSaleem K, Al-Mehaidib A, Banemai M, Aldekhail WM, Al-Muhandes A, Mohammed M, Allam R, Jambi A, Ramzan K, Imtiaz F
J Pediatr Gastroenterol Nutr 2018 Feb;66(2):250-252. doi: 10.1097/MPG.0000000000001694. PMID: 28753187
Anderson S, Koniaris S, Xin B, Brooks SS
J Pediatr Health Care 2017 Jul-Aug;31(4):506-510. Epub 2017 Mar 7 doi: 10.1016/j.pedhc.2017.01.005. PMID: 28283348
Wickramasinghe P, Lamabadusuriya SP, Lalani HA
Ceylon Med J 2001 Mar;46(1):26-7. doi: 10.4038/cmj.v46i1.6532. PMID: 11569998

Therapy

Ali S, Tariq A, Ghuncha M
J Coll Physicians Surg Pak 2019 Jun;29(6):S48-S49. doi: 10.29271/jcpsp.2019.06.S48. PMID: 31142420
Anderson S, Koniaris S, Xin B, Brooks SS
J Pediatr Health Care 2017 Jul-Aug;31(4):506-510. Epub 2017 Mar 7 doi: 10.1016/j.pedhc.2017.01.005. PMID: 28283348
Beyreiss K, Hoepffner W, Scheerschmidt G, Müller F
J Pediatr Gastroenterol Nutr 1985 Dec;4(6):887-92. doi: 10.1097/00005176-198512000-00007. PMID: 4067776

Prognosis

Hu L, Yang L, Yan K, Wu B, Wang H, Zhang R, Wang J, Cao Y, Cheng G, Zhou W
Neonatology 2022;119(1):103-110. Epub 2021 Nov 19 doi: 10.1159/000519634. PMID: 34802008
Wang W, Wang L, Ma M
J Paediatr Child Health 2020 Nov;56(11):1779-1784. Epub 2020 Sep 18 doi: 10.1111/jpc.14702. PMID: 32946683
Anderson S, Koniaris S, Xin B, Brooks SS
J Pediatr Health Care 2017 Jul-Aug;31(4):506-510. Epub 2017 Mar 7 doi: 10.1016/j.pedhc.2017.01.005. PMID: 28283348
Vallaeys L, Van Biervliet S, De Bruyn G, Loeys B, Moring AS, Van Deynse E, Cornette L
Eur J Pediatr 2013 Mar;172(3):409-11. Epub 2012 Jul 29 doi: 10.1007/s00431-012-1802-9. PMID: 22843301
Lee WS, Tay CG, Nazrul N, Paed M, Chai PF
Med J Malaysia 2009 Mar;64(1):83-5. PMID: 19852331

Clinical prediction guides

Hu L, Yang L, Yan K, Wu B, Wang H, Zhang R, Wang J, Cao Y, Cheng G, Zhou W
Neonatology 2022;119(1):103-110. Epub 2021 Nov 19 doi: 10.1159/000519634. PMID: 34802008
Lee WS, Tay CG, Nazrul N, Paed M, Chai PF
Med J Malaysia 2009 Mar;64(1):83-5. PMID: 19852331
Fairclough PD, Clark ML, Dawson AM, Silk DB, Milla PJ, Harries JT
Pediatr Res 1978 Dec;12(12):1112-4. doi: 10.1203/00006450-197812000-00002. PMID: 745864

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