Congenital lactase deficiency

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Congenital lactase deficiency

ORPHA:53690Disease

What it is

Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.

Key facts

Prevalence
1-9 / 100 000 (Europe)
Age of onset
Adult, Childhood, Infancy, Neonatal
Inheritance
Autosomal recessive
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

LCTDisease-causing germline mutation(s)

ICD-10 codes

E73.0ICD-10 names this disease exactly

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MEDDRA 10086148MESH C562600MONDO 0009115OMIM 223000UMLS C0268179

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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