Article
MPSI Manifestations and Treatment Outcome: Skeletal Focus.
International journal of molecular sciences - 22 Sept 2022
De Ponti Giada, Donsante Samantha, Frigeni Marta, Pievani Alice, Corsi Alessandro, Bernardo Maria Ester, Riminucci Mara, Serafini Marta
Abstract excerpt
Mucopolysaccharidosis type I (MPSI) (OMIM #252800) is an autosomal recessive disorder caused by pathogenic variants in the IDUA gene encoding for the lysosomal alpha-L-iduronidase enzyme. The deficiency of this enzyme causes systemic accumulation of glycosaminoglycans (GAGs). Although disease manifestations are typically not apparent at birth, they can present early in life, are progressive, and include a wide...
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