ArticlePediatric endocrinology, diabetes, and metabolism2026
Mucopolysaccharidosis type IIIC diagnosed at the age of 12 years: Why was the disease diagnosed so late?
Article in Pediatric endocrinology, diabetes, and metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Mucopolysaccharidoses (MPS) are a group of inherited metabolic diseases associated with impaired lysosomal degradation of glycosaminoglycans. The aim of this manuscript is to report a case of a patient with mucopolysaccharidosis type IIIC (MPS IIIC) diagnosed at 12 years of age - to raise awareness among pediatricians, pediatric neurologists, and endocrinologists about the possible misdiagnosis. The patient was initially diagnosed with autism spectrum disorder and hyperactivity with normal motor development. During follow-up, psychomotor regression with moderate intellectual disability was observed. The patient was referred for further metabolic work-up only after the results of molecular analysis suggesting MPS IIIC. The final diagnosis was established based on clinical, biochemical, and molecular analyses.
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