Rare diseases · Sign or symptom

Decreased circulating acid maltase activity

HP:0034932

What it means

Activity of the enzyme acid maltase (also known as alpha-1,4-glucosidase) below the lower limit of normal.

This finding is characteristic of Glycogen storage disease II (Pompe disease).

Rare diseases that can present with this1

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Decreased alpha-1,4-glucosidase activity

Decreased circulating acid maltase…

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This page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.