Chronic diarrhea due to glucoamylase deficiency
Synonyms: Maltase-glucoamylase deficiency
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic diarrhea due to glucoamylase deficiency | Maltase-glucoamylase deficiency |
| fr | Diarrhée chronique par déficit en glucoamylase | Déficit en maltase-glucoamylase |
| de | Diarrhoe, chronische, durch Glucoamylase-Mangel | |
| es | Diarrea crónica por deficiencia de glucoamilasa | |
| it | Diarrea cronica da deficit di glucoamilasi | Deficit di maltasi-glucoamilasi |
| nl | Chronische diarree door deficiëntie van glucoamylase | Deficiëntie van maltase-glucoamylase |
| pt | Diarreia crónica por deficiência de glucoamilase | |
| pl | Przewlekla biegunka z powodu niedoboru glukoamylazy | Niedobór maltazy - glukoamylazy |
| cs | Chronický průjem způsobený deficitem glukoamylázy | Deficit maltázy-glukoamylázy |
| uk | Хронічна діарея через дефіцит глюкоамілази | Дефіцит мальтазо-глюкоамілазної недостатності |
| zh | 糖化酶缺乏所致慢性腹泻 | 麦芽糖酶-葡糖糖化酶缺陷 |
| tr | Glukoamilaz eksikliğine bağlı kronik ishal | Maltaz-glukoamilaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E74.3 | NTBT | attributed | validated |
| ICD-11 | 5C61.1 | E | specific | validated |
| MONDO | 0015169 | E | validated | |
| UMLS | C4275068 | E | validated | |
| GARD | 19838 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:104006Congenital intestinal disease due to an enzymatic defect
rare gastroenterological diseases; rare genetic diseases - ORPHA:309001Disorder of carbohydrate absorption and transport
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
10 annotations · validated 2021-11-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0025129 | Abnormal small intestinal mucosa morphology | |
| HP:0025130 | Decreased small intestinal mucosa lactase level | |
| HP:0410281 | Dyspepsia | |
| HP:0002024 | Malabsorption | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0002028 | Chronic diarrhea | |
| HP:0002018 | Nausea | |
| HP:0002013 | Vomiting | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 8151467[PMID]_12394383[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/103907
- This record as JSON: /data/d/103907.json