Article
Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.
Journal of pediatric endocrinology & metabolism : JPEM - 17 Dec 2025
Erdem Fehime, Canda Ebru, Yazıcı Havva, Eser Rabia, Yoldaş Çelik Merve, Keşan Selcan, Saka Güvenç Merve, Atik Tahir, Tamsel İpek, Onay Hüseyin, Kalkan Uçar Sema, Sözmen Eser Yıldırım, Çoker Mahmut
Abstract excerpt
OBJECTIVES: Mucolipidosis (ML) type II α/β (I-cell disease) and type III (Pseudo-Hurler polydystrophy) are rare autosomal recessive lysosomal storage disorders caused by mutations in the GNPTAB (ML III α/β) and GNPTG (ML III γ) genes, leading to impaired lysosomal enzyme trafficking. These disorders manifest as progressive multisystem diseases with skeletal, neurological, cardiovascular, and respiratory...
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