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Дефіцит трегалази

ORPHA:103909· ICD-10 E74.3· Trehalase deficiency

Визначення(English summary)

A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere.

Поширеність
Unknown
Успадкування
Autosomal dominant
Вік початку
Adolescent, Adult