Association of diabetes mellitus type I and mucopolysaccharidosis type IV A: case report
DOI:
https://doi.org/10.47456/rbps.v26isupl_1.44395Keywords:
Diabetes mellitus, Mucopolysaccharidosis IV, autoimmunity, GlycosaminoglycansAbstract
Introduction: Type I diabetes mellitus (DM1) is a chronic illness that results from insulin deficiency caused by the destruction of pancreatic beta cells that produce insulin via an autoimmunity mechanism. Mucopolysaccharidoses (MPS) are genetic disorders inherited through autosomal recessive traits, caused by a deficiency of enzymes responsible for breaking down glycosaminoglycans (GAGs). MPS type IV A (Morquio Syndrome, OMIM #253000) consists of a deficiency of the enzyme N-acetylgalactosamine- 6-sulfato sulfatase. Therefore, GAGs accumulate in lysosomes in multiple tissues and systems, leading to cellular dysfunction and clinical symptoms. Case report: A four-year-old patient was diagnosed with DM1 at the age of two, with anti-GAD and anti-insulin autoantibodies, and was undergoing insulin therapy. Additionally, the physical examination revealed phenotypic changes such as macrocrania, a prominent forehead, a flat nasal root, epicanthus, a short columella, a short neck, a short and bulging chest, enlarged wrists, and brachydactyly. The diagnosis involved a skeletal dysplasia panel whose results were compatible with MPS type IV A. Laboratory tests confirmed increased urinary glycosaminoglycans, and the N-acetylgalactosamine-6-sulfatase enzymatic assay confirmed the enzymatic deficiency, ultimately confirming the diagnosis. As a result, the child received specific enzyme replacement therapy to prevent complications and provide a better prognosis. Discussion: Although rare, the differential diagnosis of young individuals with chronic hyperglycemic symptoms associated with phenotypic and functional changes should include the association of DM1 and MPS type IV.
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