Scientific Letter
Glucose and galactose malabsorption: A new case in Spain
Malabsorción de glucosa y galactosa. Nuevo caso en España
Blanca Lodoso-Torrecillaa, Guiomar Perez de Nanclaresb,
, Intza Garinc, Ariane Calvo-Saezd, Idoya Martinez-Fernandez de Pinedoa
Corresponding author
a Grupo de Investigación en Enfermedades Raras, Unidad Neonatal, Servicio de Pediatría, Instituto de Investigación Sanitaria BioAraba, OSI Araba, Vitoria-Gasteiz, Spain
b Grupo de Investigación de Enfermedades Raras, Laboratorio de (Epi)Genética Molecular, Instituto de Investigación Sanitaria BioAraba, OSI Araba-Txagorritxu, Vitoria-Gasteiz, Spain
c Laboratorio de Genética, UGC Laboratorio, OSI Araba, Vitoria-Gasteiz, Spain
d Sección de Gastroenterología, Hepatología y Nutrición Pediátrica, OSI Araba, Vitoria-Gasteiz, Spain
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Nuevo caso en España" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Congenital diarrhoea refers to a heterogeneous group of enteropathies that cause symptoms from the first few days of life, and it may be the only manifestation or one of the symptoms of a systemic disease. In most cases, early treatment is necessary to prevent dehydration, given the potential complications of the latter. The first step in the differential diagnosis is to differentiate between secretory and osmotic diarrhoea: in the former, the diarrhoeal output does not improve with a nil per os trial, whereas in the latter it does.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">We present the case of a male newborn aged 2 days admitted to the neonatal unit with hyperbilirubinaemia. The parents were Pakistani and reported consanguinity. The newborn was a product of a monochorionic-diamniotic twin pregnancy and had been born second at 36 weeks’ gestation with a weight of 2460<span class="elsevierStyleHsp" style=""></span>g. He was receiving artificial formula following the wishes of the mother. On admission to the neonatal unit, the physical examination revealed a 15% weight loss, jaundice extending to Kramer's zone 3 and a dry oral mucosa, with no other abnormal findings. Blood tests revealed hyperbilirubinaemia on account of elevation of indirect bilirubin and dehydration with hypernatraemia and hyperchloraemia (urea, 49<span class="elsevierStyleHsp" style=""></span>mg/dL; creatinine, 1.5<span class="elsevierStyleHsp" style=""></span>mg/dL; sodium, 163<span class="elsevierStyleHsp" style=""></span>mEq/L; chloride, 132<span class="elsevierStyleHsp" style=""></span>mEq/L) and metabolic acidosis (pH, 7.30; bicarbonate, 18.7<span class="elsevierStyleHsp" style=""></span>mM; base excess, 7<span class="elsevierStyleHsp" style=""></span>mM; lactate, 3.9<span class="elsevierStyleHsp" style=""></span>mM). Phototherapy was initiated, along with placement of a peripheral catheter for intravenous fluid replacement, while the patient continued to receive artificial formula. The diarrhoeal output continued to be very high, leading to prescription of nil per os, which achieved resolution of the diarrhoea. The analysis of stool samples revealed an acidic pH and the presence of reducing bodies. In the following days, several attempts were made to reintroduce oral feedings, first with elemental formula and later with a soy-based formula, with diarrhoea recurring in both instances as the feeding volume increased. Eventually, the newborn was given a fructose-based formula with no other carbohydrates, to which he responded favourably. Increases in feeding volume did not create problems, and the boy started producing normal stools and exhibiting adequate weight gain.</p><p id="par0015" class="elsevierStylePara elsevierViewall">In this case, since the patient improved with fasting, the diarrhoea was classified as osmotic, and the presence of reducing bodies in the stool suggested that the congenital diarrhoea could be due to carbohydrate malabsorption. Since the patient did not improve with the soy formula, we suspected glucose–galactose malabsorption,<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> as soy formulas do not contain galactose but do contain glucose. In fact, upon switching to a formula in which the sole carbohydrate was fructose, the newborn responded well, which supported our clinical suspicion.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Congenital glucose–galactose malabsorption (cGGM) is a rare autosomal recessive disorder characterised by changes in the <span class="elsevierStyleItalic">SLC5A1</span> gene that encodes the protein SGLT1, responsible for transporting glucose and galactose from the intestinal lumen into intestinal cells.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> Sequencing of this gene in the patient revealed the homozygous mutation c.875G>A (p.C292Y), previously described as a pathogenic variant, as it impacts the location and function of the protein,<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> thus confirming the diagnosis. Microsatellite genotyping confirmed that the twins were dizygotic, which explained the clinical differences between the two.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Congenital glucose–galactose malabsorption is characterised by severe diarrhoea and dehydration from the first day of life, which can quickly result in the death of the infant if glucose, galactose and the disaccharides that contain them are not removed from the diet.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> Approximately 300 cases have been diagnosed worldwide.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> Treatment consists in the elimination of glucose and galactose from the diet, substituting a fructose-based formula, which achieves resolution of diarrhoea. Some authors have proposed that cGGM improves over time as the intestinal flora adapts, and it appears that administration of <span class="elsevierStyleItalic">Lactobacillus acidophilus</span> helps shorten the time that carbohydrates need to be restricted.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> However, there are no prospective studies in the literature establishing how to identify which patients will develop tolerance and which will remain intolerant for life, so we currently recommend that older children and adults consume a diet where fructose is the sole source of carbohydrates until tolerance can be evaluated.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Lodoso-Torrecilla B, Perez de Nanclares G, Garin I, Calvo-Saez A, Martinez-Fernandez de Pinedo I. Malabsorción de glucosa y galactosa. Nuevo caso en España. An Pediatr (Barc). 2020;92:104–105.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Advances in evaluation of chronic diarrhea in infants" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "J.R. Thiagarajah" 1 => "D.S. Kamin" 2 => "S. Acra" 3 => "J.D. Goldsmith" 4 => "J.T. Roland" 5 => "W.I. 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| 2022 August | 84 | 45 | 129 |
| 2022 July | 112 | 34 | 146 |
| 2022 June | 43 | 28 | 71 |
| 2022 May | 82 | 23 | 105 |
| 2022 April | 40 | 23 | 63 |
| 2022 March | 73 | 38 | 111 |
| 2022 February | 50 | 20 | 70 |
| 2022 January | 70 | 23 | 93 |
| 2021 December | 47 | 35 | 82 |
| 2021 November | 72 | 65 | 137 |
| 2021 October | 115 | 49 | 164 |
| 2021 September | 58 | 31 | 89 |
| 2021 August | 108 | 35 | 143 |
| 2021 July | 67 | 32 | 99 |
| 2021 June | 74 | 31 | 105 |
| 2021 May | 72 | 33 | 105 |
| 2021 April | 160 | 61 | 221 |
| 2021 March | 72 | 31 | 103 |
| 2021 February | 53 | 23 | 76 |
| 2021 January | 73 | 18 | 91 |
| 2020 December | 60 | 21 | 81 |
| 2020 November | 51 | 24 | 75 |
| 2020 October | 49 | 15 | 64 |
| 2020 September | 39 | 20 | 59 |
| 2020 August | 29 | 13 | 42 |
| 2020 July | 47 | 19 | 66 |
| 2020 June | 34 | 11 | 45 |
| 2020 May | 34 | 13 | 47 |
| 2020 April | 39 | 8 | 47 |
| 2020 March | 55 | 16 | 71 |
| 2020 February | 52 | 23 | 75 |
| 2020 January | 29 | 9 | 38 |
Show all
