In other species: dog , domestic cat , taurine cattle

Categories: Lysosomal storage disease

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 607014 (trait) , 607015 (trait) , 607016 (trait) , 252800 (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 known as Hurler syndrome

Molecular basis: Shinoda et al. (2025) report Japanese macaques with MPS-like clinical signs with a likely causal variant in the functional candidate gene IDUA (c.786 C>A; p.(H262Q), omia.variant:1786). The authors report establishment and results of an enzyme replacement therapy using IDUA transgenic silkworms. 

Clinical features: Shinoda et al. (2025): "MPS-like macaques exhibited a short nasal bridge and wrinkles under the eyes, and redness around the eyes shortly after birth ... . Although no corneal opacity was observed in these macaques, they exhibited clinical findings, including developmental retardation (short stature and slow teething), protruding tongue, gingival hyperplasia, thickened skin, kyphosis, and knee joint contracture ... . Vertebral deformities and mitral valve regurgitation were also identified ... . [The authors] detected that the urinary GAG levels, including heparin, HS, chondroitin sulfate (CS), and DS, were higher in the MPS I macaques than in [wild-type] WT ... ."

Associated gene: