Congenital glucose‐galactose malabsorption: A case report with a novel <i>SLC5A1</i> mutation

Al-lawama, Manar; Albaramki, Jumana; Al-Tamimi, M. A.; El‐Shanti, Hatem

doi:10.1002/ccr3.1913

Cited by 5 publications

(3 citation statements)

References 9 publications

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“…Therefore, it is hard for clinicians to consider CGGM as an initial diagnosis. We reviewed various case series [8][9][10][11][12] and case reports [5][6][7][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29] published until now to know better the clinical and molecular characteristics of CGGM and to help clinicians in the diagnosis and management of CGGM.…”

Section: What This Paper Addsmentioning

confidence: 99%

Literature review on congenital glucose–galactose malabsorption from 2001 to 2019

Wang

2020

J Paediatrics Child Health

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Aim: Congenital glucose-galactose malabsorption (CGGM) is a rare disease characterised by severe diarrhoea, dehydration and weight loss. To better understand CGGM, we investigated all the case reports and series of CGGM from 2001 to 2019. Methods: A review of reports of CGGM published from 2001 to 2019 was undertaken, using PubMed, Ovid Medline, Springer, Wanfang Database, CBMD database and CKNI database. The clinical features, diagnosis, treatment and prognosis of CGGM in these reports were obtained and analysed. Results: We reviewed 107 cases for this study. Out of 55 cases from Saudi Arabia and Turkey, 43 cases (78.2%) were from consanguineous marriage. Forty-nine cases (73.1%) were infants. Dehydration, diarrhoea and weight loss occurred in almost all cases. Half of the cases presented hypernatremia and abdominal distension. Vomiting, polyuria/haematuria and fever were reported in 11, 7 and 3 cases, respectively. Twenty cases (18.7%) showed hypercalcaemia or nephrolithiasis. Stool pH was tested in 43 cases (40.2%). Fifty-five cases (51.4%) were diagnosed for more than 1 month after the onset of symptoms. Two cases (1.9%) died, one needed amputation, and the other 104 cases (97.2%) recovered with fructose formula. Seventy-three cases (68.2%) underwent gene testing, 30 SLC5A1 gene mutations were detected, with 23 cases homozygous, and seven heterozygous mutation. Conclusion: The clinical characteristics of CGGM are nonspecific, and the diagnosis method is not conventionally applied. Fasting and gene testing are the two most important diagnostic methods. The best treatment of CGGM is supplementation with fructose-based formula.

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Section: What This Paper Addsmentioning

confidence: 99%

Literature review on congenital glucose–galactose malabsorption from 2001 to 2019

Wang

2020

J Paediatrics Child Health

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“…We and other groups reported that several laxatives, lubiprostone (Mishima et al, 2015 ), linaclotide (Nanto‐Hara et al, 2020 ), and lactulose (Sueyoshi et al, 2019 ) modify the gut microbiota and ameliorate CKD progression by suppressing uremic toxin production. Genetic mutations within the SGLT1 gene ( Slc5a1 ) in humans are associated with the neonatal onset of severe life‐threatening diarrhea and dehydration due to increased colonic carbohydrates (Al‐Lawama et al, 2019 ; Lehmann & Hornby, 2016 ). Oral administration of an SGLT1 selective inhibitor in diabetic rat models also reduced blood glucose, with diarrhea occurring even at a higher dose (Fushimi et al, 2013 ).…”

Section: Discussionmentioning

confidence: 99%

SGLT‐1‐specific inhibition ameliorates renal failure and alters the gut microbial community in mice with adenine‐induced renal failure

Kikuchi

Oikawa

et al. 2021

Physiological Reports

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Sodium‐dependent glucose cotransporters (SGLTs) have attracted considerable attention as new targets for type 2 diabetes mellitus. In the kidney, SGLT2 is the major glucose uptake transporter in the proximal tubules, and inhibition of SGLT2 in the proximal tubules shows renoprotective effects. On the other hand, SGLT1 plays a role in glucose absorption from the gastrointestinal tract, and the relationship between SGLT1 inhibition in the gut and renal function remains unclear. Here, we examined the effect of SGL5213, a novel and potent intestinal SGLT1 inhibitor, in a renal failure (RF) model. SGL5213 improved renal function and reduced gut‐derived uremic toxins (phenyl sulfate and trimethylamine‐ N ‐oxide) in an adenine‐induced RF model. Histological analysis revealed that SGL5213 ameliorated renal fibrosis and inflammation. SGL5213 also reduced gut inflammation and fibrosis in the ileum, which is a primary target of SGL5213. Examination of the gut microbiota community revealed that the Firmicutes/Bacteroidetes ratio, which suggests gut dysbiosis, was increased in RF and SGL5213 rebalanced the ratio by increasing Bacteroidetes and reducing Firmicutes. At the genus level, Allobaculum (a major component of Erysipelotrichaceae) was significantly increased in the RF group, and this increase was canceled by SGL5213. We also measured the effect of SGL5213 on bacterial phenol‐producing enzymes that catalyze tyrosine into phenol, following the reduction of phenyl sulfate, which is a novel marker and a therapeutic target for diabetic kidney disease DKD. We found that the enzyme inhibition was less potent, suggesting that the change in the microbial community and the reduction of uremic toxins may be related to the renoprotective effect of SGL5213. Because SGL5213 is a low‐absorbable SGLT1 inhibitor, these data suggest that the gastrointestinal inhibition of SGLT1 is also a target for chronic kidney diseases.

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“…Solute carrier family 5 member 1 ( SLC5A1 ), also known as SGLT1 , is a member of the sodium-dependent glucose transporter ( SGLT ) family, allowing the transfer of glucose and galactose to intracellular sodium [14]. Glucose is the primary source of energy for metabolism and development in fetal and placental tissue [15].…”

Section: Introductionmentioning

confidence: 99%

Single Nucleotide Polymorphisms in SLC5A1, CCNA1, and ABCC1 and the Association with Litter Size in Small-Tail Han Sheep

Liu

Zhang

et al. 2019

Animals

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SLC5A1, CCNA1, and ABCC1 have been extensively studied as candidate genes because of their great influence on the reproductive traits of animals. However, little is known about the association between polymorphisms of the SLC5A1, CCNA1, and ABCC1 genes and litter size in Small-Tail Han sheep. In this study, the expression levels of SLC5A1, CCNA1, and ABCC1 in HPG (hypothalamic–pituitary–gonadal) axis tissues of polytocous and monotocous Small-Tail Han sheep were analyzed by qPCR. To better understand the effects of four single nucleotide polymorphisms (SNPs) comprising of g.70067210 T > C in SLC5A1, g.25350431 C > T and g.25360220 T > C in CCNA1, and g.14413132 C > T in ABCC1, a population genetic analysis was conducted using data obtained from genotyping in 728 sheep from seven breeds. The results indicated that all genes included in this study were differentially expressed in the pituitary and uterus of polytocous and monotocous Small-Tail Han sheep (p < 0.05). The associations of these four SNPs and the FecB mutation with litter size in 384 Small-Tail Han sheep were analyzed, therefore, and it was found that both g.70067210T > C and the FecB mutation were significantly associated with litter size (p < 0.05). The linear regression analysis of the association of multiple markers (FecB and g.70067210 T > C in SCL5A1) with litter size indicated that homozygous ewes carrying the BB/TT genotype had larger litter size than any ewes with any other genotype. In conclusion, the SLC5A1 SNPs significantly affect litter size in sheep and are useful as genetic marker for litter size.

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Congenital glucose‐galactose malabsorption: A case report with a novel SLC5A1 mutation

Cited by 5 publications

References 9 publications

Literature review on congenital glucose–galactose malabsorption from 2001 to 2019

Literature review on congenital glucose–galactose malabsorption from 2001 to 2019

SGLT‐1‐specific inhibition ameliorates renal failure and alters the gut microbial community in mice with adenine‐induced renal failure

Single Nucleotide Polymorphisms in SLC5A1, CCNA1, and ABCC1 and the Association with Litter Size in Small-Tail Han Sheep

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