A má absorção de glicose-galactose (GGM) é uma doença metabólica genética muito rara e que pode ser fatal. Ela é caracterizada pela dificuldade do corpo em absorver a glicose e a galactose, o que causa diarreia aquosa grave e desidratação. Os sintomas aparecem logo após o nascimento.
Introdução
O que você precisa saber de cara
A má absorção de glicose-galactose (GGM) é uma doença metabólica genética muito rara e que pode ser fatal. Ela é caracterizada pela dificuldade do corpo em absorver a glicose e a galactose, o que causa diarreia aquosa grave e desidratação. Os sintomas aparecem logo após o nascimento.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 23 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Electrogenic Na(+)-coupled sugar symporter that actively transports D-glucose or D-galactose at the plasma membrane, with a Na(+) to sugar coupling ratio of 2:1. Transporter activity is driven by a transmembrane Na(+) electrochemical gradient set by the Na(+)/K(+) pump (PubMed:20980548, PubMed:34880492, PubMed:35077764, PubMed:8563765, PubMed:37217492). Has a primary role in the transport of dietary monosaccharides from enterocytes to blood. Responsible for the absorption of D-glucose or D-galac
Apical cell membrane
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.
Variantes genéticas (ClinVar)
79 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 490 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
3 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Má absorção de glicose-galactose
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
15 ensaios clínicos encontrados.
Publicações mais relevantes
Congenital glucose-galactose malabsorption: An unusual cause of chronic diarrhea in infancy.
Renal glucosuria in children.
The kidneys play a critical role in maintaining glucose homeostasis. Under normal renal tubular function, most of the glucose filtered from the glomeruli is reabsorbed in the proximal tubules, leaving only trace amounts in the urine. Glycosuria can occur as a symptom of generalized proximal tubular dysfunction or when the reabsorption threshold is exceeded or the glucose threshold is reduced, as seen in familial renal glycosuria (FRG). FRG is characterized by persistent glycosuria despite normal blood glucose levels and tubular function and is primarily associated with mutations in the sodium/glucose cotransporter 5A2 gene, which encodes the sodium-glucose cotransporter (SGLT) 2. Inhibiting SGLTs has been proposed as a novel treatment strategy for diabetes, and since FRG is often considered an asymptomatic and benign condition, it has inspired preclinical and clinical studies using SGLT2 inhibitors in type 2 diabetes. However, patients with FRG may exhibit clinical features such as lower body weight or height, altered systemic blood pressure, diaper dermatitis, aminoaciduria, decreased serum uric acid levels, and hypercalciuria. Further research is needed to fully understand the pathophysiology, molecular genetics, and clinical manifestations of renal glucosuria.
Congenital Glucose-Galactose Malabsorption: A Rare Cause of Intractable Diarrhea in Infancy.
A Rare Case of Congenital Glucose Galactose Malabsorption Due to SLC5A1 Mutation.
Protracted neonatal diarrhea is severe and potentially life-threatening if not promptly diagnosed and treated. Causes include congenital defects in sodium, chloride, glucose/galactose, bile acid transport, enterokinase deficiency, and villous atrophy. Glucose-galactose malabsorption (GGM) is a rare autosomal recessive disorder caused by mutations in the SGLT1 gene, impairing glucose and galactose absorption and leading to osmotic diarrhea. This case report highlights the rarity of GGM and emphasizes the importance of early recognition to enable prompt dietary intervention, preventing failure to thrive and reducing mortality. It further underscores the imperative need for fructose-based formulas to be readily available. We describe a five-week-old full-term male infant, born to third-cousin parents, who presented in hypovolemic shock due to persistent diarrhea that started at two days of life, accompanied by severe metabolic acidosis and acute kidney injury. Abdominal ultrasound revealed medullary nephrocalcinosis. Endoscopic evaluation showed nonspecific duodenitis. The patient initially failed to reach full feeds on multiple formula trials, including amino acid-based, extensively hydrolyzed, and rice-based formulas, necessitating parenteral nutrition, which was later discontinued due to fungemia. Extensive investigations and genetic testing (whole exome sequencing) confirmed congenital GGM (SLC5A1 mutation). Due to the unavailability of glucose and galactose-free formula, he was initially started on a ketogenic formula and subsequently transitioned to a fructose-based formula once available. Following dietary modification, the patient showed significant clinical improvement, with resolution of diarrhea, steady weight gain, and appropriate growth on follow-up. In conclusion, GGM should be considered in infants with persistent diarrhea and failure to thrive. Timely diagnosis optimizes prognosis, improves outcomes, and facilitates genetic counseling for affected families.
Congenital Glucose-Galactose Malabsorption Presenting as Hypertriglyceridemia and Medullary Nephrocalcinosis.
A 4-month-old male child was admitted with failure to thrive, persistent osmotic diarrhea, and presence of multiple metabolic abnormalities, which included hypertriglyceridemia, hypercholesterolemia, hypercalcemia, and medullary nephrocalcinosis. He was diagnosed with congenital glucose-galactose malabsorption (CGGM). The exome analysis showed presence of pathogenic mutation in exon 8 of the SLC5A1 gene (c875G>A, p.Cys292Tyr). This gene codes for a sodium-glucose cotransporter called SGLT1. To date, no clinical case reports have reported hypertriglyceridemia and hypercholesterolemia with CGGM. Hypercalcemia and medullary nephrocalcinosis have also been reported only in a handful of CGGM cases worldwide. Through this case, the authors attempt to highlight the uncommon manifestation of this rare disease to facilitate timely management. Although the child died due to healthcare-associated infection (HCAI), pre-natal counseling of the family was carried out for the management of future pregnancies.
Publicações recentes
Congenital glucose-galactose malabsorption: An unusual cause of chronic diarrhea in infancy.
A Rare Case of Congenital Glucose Galactose Malabsorption Due to SLC5A1 Mutation.
Congenital Glucose-Galactose Malabsorption Presenting as Hypertriglyceridemia and Medullary Nephrocalcinosis.
Congenital Glucose-Galactose Malabsorption: A Rare Cause of Intractable Diarrhea in Infancy.
A new link between insulinoma and congenital glucose-galactose malabsorption.
📚 EuropePMC90 artigos no totalmostrando 53
Congenital glucose-galactose malabsorption: An unusual cause of chronic diarrhea in infancy.
Revista de gastroenterologia de Mexico (English)A Rare Case of Congenital Glucose Galactose Malabsorption Due to SLC5A1 Mutation.
CureusCongenital Glucose-Galactose Malabsorption Presenting as Hypertriglyceridemia and Medullary Nephrocalcinosis.
Pediatric reportsCongenital Glucose-Galactose Malabsorption: A Rare Cause of Intractable Diarrhea in Infancy.
Indian pediatricsA new link between insulinoma and congenital glucose-galactose malabsorption.
Endocrine oncology (Bristol, England)Carbohydrate malabsorption mimicking immune dysregulation: A histological challenge.
JPGN reportsRenal glucosuria in children.
World journal of clinical pediatricsCracking the Codes for Congenital Diarrhea and Enteropathies (CoDEs): A Case Report and Review.
CureusImportance of genetic sequencing studies in managing chronic neonatal diarrhea: a case report of a novel variant in the glucose-galactose transporter SLC5A1.
Frontiers in pediatricsNovel Mutation in the SLC5A1 Gene Causing Glucose-Galactose Malabsorption: First Confirmed Case From Central America.
JPGN reportsCongenital Diarrhoea In A Neonate With Hypernatraemia And Dehydration.
JPMA. The Journal of the Pakistan Medical AssociationSLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption.
GenesCongenital Glucose-Galactose Malabsorption in a Neonate with Hyperbilirubinemia and Hypernatremia.
Indian journal of pediatricsFructose Metabolism and Its Effect on Glucose-Galactose Malabsorption Patients: A Literature Review.
Diagnostics (Basel, Switzerland)Congenital Glucose-Galactose Malabsorption in a Child.
Indian pediatricsCoordinated Multi-Language Translation of A Validated Symptom Questionnaire for Carbohydrate Intolerances: A Practical Structured Procedure.
Journal of gastrointestinal and liver diseases : JGLDImportance of Early Genetic Sequencing in Neonates Admitted to NICU with Recurrent Hypernatremia: Results of a Prospective Cohort Study.
NeonatologyCongenital Glucose-Galactose Malabsorption: A Case With a Novel SLC5A1 Mutation in a Saudi Infant.
CureusThe Molecular Basis of Glucose Galactose Malabsorption in a Large Swedish Pedigree.
Function (Oxford, England)Enteroendocrine Dysfunction in Two Saudi Sisters.
Case reports in gastroenterologyProkaryotic Solute/Sodium Symporters: Versatile Functions and Mechanisms of a Transporter Family.
International journal of molecular sciencesNGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.
Diagnostics (Basel, Switzerland)Long-Term Dietary Changes in Subjects with Glucose Galactose Malabsorption Secondary to Biallelic Mutations of SLC5A1.
Digestive diseases and sciencesA Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene.
Journal of pediatric geneticsLiterature review on congenital glucose-galactose malabsorption from 2001 to 2019.
Journal of paediatrics and child healthGlucose transporters in the small intestine in health and disease.
Pflugers Archiv : European journal of physiologyValid Assessment of Carbohydrate Intolerance and the Need for a Distinction to Carbohydrate Malabsorption. Comment on "Roles of Lactose and Fructose Malabsorption and Dietary Outcomes in Children Presenting with Chronic Abdominal Pain.", Nutrients, 2019, 11, 3063.
NutrientsRoles of Lactose and Fructose Malabsorption and Dietary Outcomes in Children Presenting with Chronic Abdominal Pain.
NutrientsNutrition management of congenital glucose-galactose malabsorption: Case report of a Chinese infant.
MedicineRelevance of solute carrier family 5 transporter defects to inherited and acquired human disease.
Journal of applied geneticsA Rare Cause of Intractable Diarrhea of Infancy.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPWhat does sodium-glucose co-transporter 1 inhibition add: Prospects for dual inhibition.
Diabetes, obesity & metabolism[Glucose and galactose malabsorption: A new case in Spain].
Anales de pediatriaCongenital glucose-galactose malabsorption: A case report with a novel SLC5A1 mutation.
Clinical case reportsCongenital glucose-galactose malabsorption: A rare and severe cause of infant diarrhea.
Medicina clinicaGenetic Variants in SGLT1, Glucose Tolerance, and Cardiometabolic Risk.
Journal of the American College of CardiologyDevelopment of SGLT1 and SGLT2 inhibitors.
DiabetologiaAltered pancreatic islet morphology and function in SGLT1 knockout mice on a glucose-deficient, fat-enriched diet.
Molecular metabolismHistory of Acquired Monosaccharide Intolerance in Houston, Texas.
Journal of pediatric gastroenterology and nutritionNovel and Unexpected Functions of SGLTs.
Physiology (Bethesda, Md.)SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption.
Journal of pediatric gastroenterology and nutritionCauses Of Chronic Non-Infectious Diarrhoea In Infants Less Than 6 Months Of Age: Rarely Recognized Entities.
Journal of Ayub Medical College, Abbottabad : JAMCA 9-Day-Old With Weight Loss and Diarrhea.
PediatricsCongenital Glucose-Galactose Malabsorption: A Case Report.
Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & PractitionersTwo Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)2D3 .
Hormone research in paediatricsCongenital glucose-galactose malabsorption diagnosed from macrohematuria in an infant.
Pediatrics international : official journal of the Japan Pediatric Society[Evolution of type 2 diabetes and carbohydrate intolerance following bariatric surgery in a Mexican mestizo population].
Cirugia y cirujanosCongenital Glucose-Galactose Malabsorption in a Turkish Newborn: A Novel Mutation of Na+/Glucose Cotransporter Gene.
Digestive diseases and sciencesDiagnosing and Treating Intolerance to Carbohydrates in Children.
NutrientsBreath Hydrogen as a Biomarker for Glucose Malabsorption after Roux-en-Y Gastric Bypass Surgery.
Disease markersA novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe.
BMC gastroenterologyDisaccharidase Deficiencies in Children With Chronic Abdominal Pain.
JPEN. Journal of parenteral and enteral nutritionRecurrent abdominal pain in children: a clinical approach.
Singapore medical journalAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Congenital glucose-galactose malabsorption: An unusual cause of chronic diarrhea in infancy.
- Renal glucosuria in children.
- Congenital Glucose-Galactose Malabsorption: A Rare Cause of Intractable Diarrhea in Infancy.
- A Rare Case of Congenital Glucose Galactose Malabsorption Due to SLC5A1 Mutation.
- Congenital Glucose-Galactose Malabsorption Presenting as Hypertriglyceridemia and Medullary Nephrocalcinosis.
- A new link between insulinoma and congenital glucose-galactose malabsorption.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:35710(Orphanet)
- OMIM OMIM:606824(OMIM)
- MONDO:0011731(MONDO)
- GARD:6521(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q5572341(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar