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IEMbase 0669: TREH-related trehalase deficiency

Scope

Field Value
IEMbase ID 669
Nosology 3.6.04.02
Nosology code IEM0319
Gene TREH
External IDs OMIM:612119; ORPHA:103909
Generated mapping UNMAPPED; best candidate Galactosemia.yaml
Candidate DisMech targets Trehalase_Deficiency.yaml
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents autosomal recessive TREH-related trehalase deficiency, also labeled trehalose intolerance.

The clinical signal is adolescent/adult abdominal pain, diarrhea, and rectal flatulence. The biochemical row reports normal stool reducing sugars in adolescence and adulthood.

DisMech phenotype coverage

Trehalase_Deficiency.yaml is an exact local target. It models brush-border trehalase deficiency due to TREH variants, impaired hydrolysis of dietary trehalose, and osmotic/fermentative gastrointestinal symptoms after trehalose-containing foods, especially mushrooms. It also records that many people can be asymptomatic or mildly affected.

The local entry includes diarrhea, vomiting, abdominal distention/flatulence, dietary avoidance of trehalose-containing foods, oral trehalose tolerance testing, and small-intestinal disaccharidase assay context.

The generated Galactosemia.yaml candidate is a sugar-intolerance false positive and should not be used.

Concordance and completeness

Judgement: false negative from stale generated mapping; current DisMech has an exact TREH target.

IEMbase is more concise than DisMech, but the symptom direction is concordant: post-dietary carbohydrate intolerance presenting as abdominal pain, diarrhea, and flatulence. The normal stool reducing-sugars row is a useful diagnostic caveat to preserve.

Curation actions

  • Resolve this record to Trehalase_Deficiency.yaml.
  • Reject Galactosemia.yaml as the generated candidate.
  • Preserve normal stool reducing sugars and adolescent/adult GI timing if row completeness is reviewed.
  • Map rectal flatulence to the local flatulence/abdominal-distention phenotype concept if importing.