In other species: dog , domestic cat , taurine cattle , indicine cattle (zebu) , sheep

Categories: Lysosomal storage disease

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 232300 (trait) , 606800 (gene)

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2025

Cross-species summary: Also called Pompe disease, Pompe's disease, acid maltase deficiency, and generalised glycogenesis type II. A lysosomal storage disease in which there is a buildup (storage) of glycogen, due to the lack of the enzyme alpha-glucosidase, whose task is to break down glycogen into its constituent glucose molecules. Characterised by poor growth, incoordination, muscle weakness and eventual recumbency.

History: Pompe disease in Japanese quail was first identified in Japan in 1974 (Nunoya et al.,1983; Mizutani, 2002).

Molecular basis: Al Faruq et al. (2025): "In 1998, the NIN-NCNP [National Institute of Neuroscience, National Center of Neurology and Psychiatry] group reported two types of JQ [Japanese quail] GAA genes: GAA I and GAA II [Kunita et al., 1998]. They also demonstrated that the GAA I gene is responsible for producing lysosomal GAA activity in JQs and that a lack of GAA I mRNA, normally composed of an open reading frame (ORF; 2799 base pairs, 932 amino acids), is a cause of deficient GAA activity and subsequent PD in JQs."
Al Faruq et al. (2025) identified a likely causal variant (c.1096delG; p.(A366Hfs*23); omia.variant:1827) in the functional candidate gene GAA using Sanger sequencing of DNA extracted from "paraffin-embedded skeletal muscle blocks from four [affected] JQs stored since the 1970s ...."

Associated gene: