Congenital lactase deficiency
- Synonyms
- ALACTASIA, CONGENITAL; DISACCHARIDE INTOLERANCE II
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (26 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Dehydration
Dehydration
- MedGen UID: 8273
- Concept ID: C0011175
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Metabolic acidosis
Metabolic acidosis
- MedGen UID: 65117
- Concept ID: C0220981
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Dehydration
- Abnormality of the digestive system
- Decreased small intestinal mucosa lactase level
Decreased small intestinal mucosa lactase level
- MedGen UID: 1390950
- Concept ID: C4476604
- Finding: Finding
Abnormality of the digestive system
- Diarrhea
Diarrhea
- MedGen UID: 8360
- Concept ID: C0011991
- Finding: Sign or Symptom
Abnormality of the digestive system
- Lactose intolerance
Lactose intolerance
- MedGen UID: 6001
- Concept ID: C0022951
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Decreased small intestinal mucosa lactase level
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