Glucose-galactose malabsorption
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MONOSACCHARIDE MALABSORPTION GM GGM SGLT1 deficiency |
| Number of Symptoms | 12 |
| OrphanetNr: | 35710 |
| OMIM Id: |
606824
|
| ICD-10: |
E74.3 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
10066388 |
| Snomed: |
190749000 |
Prevalence, inheritance and age of onset:
| Prevalence: | 300 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT Congenital intestinal transport defect -Rare gastroenterologic disease -Rare genetic disease Glucose transport disorder -Rare genetic disease |
Symptom Information:
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(HPO:0003076) | Glycosuria | 32 / 7739 | ||||
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(HPO:0003270) | Abdominal distention | 46 / 7739 | ||||
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(HPO:0002028) | Chronic diarrhea | 51 / 7739 | ||||
|
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0001986) | Hypertonic dehydration | 4 / 7739 | ||||
|
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(HPO:0004924) | Abnormal oral glucose tolerance | 2 / 7739 | ||||
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(HPO:0001942) | Metabolic acidosis | 81 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Glucose breath hydrogen test shows malabsorption of glucose and galactose | 1 / 7739 | ||||
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(OMIM) | Diarrhea, severe, chronic | 1 / 7739 | ||||
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(OMIM) | Increased bowel sounds | 1 / 7739 | ||||
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(OMIM) | Glucosuria, mild, intermittent | 1 / 7739 |
Associated genes:
| SLC5A1; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Diagnosis OMIM |
- Prenatal Diagnosis Martin et al. (1996) performed prenatal diagnosis in 2 subsequent pregnancies in a large consanguineous affected family, using EcoRV restriction digestion. One showed that the fetus was heterozygous and the other showed that the ... |
| Clinical Description OMIM |
The intestinal monosaccharide transporter deficiency known as glucose/galactose malabsorption (GGM) produces a clinical picture indistinguishable from that of intestinal disaccharidase deficiency (222900). In GGM, fructose and xylose are absorbed normally. The disorder manifests itself within the first weeks of ... |
| Molecular genetics OMIM |
Turk et al. (1991) identified a missense mutation (182380.0001) in 2 related patients with glucose/galactose malabsorption. Martin et al. (1996) screened 30 patients for mutations in the SGLT1 gene (182380) and used a heterologous expression system to link the ... |