Mucolipidosis type III is a rare, autosomal recessive disorder, which is part of a group of storage diseases as a result of inborn error of lysosomal enzyme metabolism. It is characterized by the gradual onset of signs and symptoms affecting the physical and mental development as well as visual changes, heart, skeletal and joint. Although oral findings associated with mucolipidosis type II have been extensively reported, there is a shortage of information on mucolipidosis type III. This paper presents radiological and histological findings of multiple radiolucent lesions associated with impacted teeth in the jaw of a 16 year-old youngster with mucolipidosis type III.
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Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta.
BMC Pediatr
December 2024
Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, Guangzhou, 510623, China.
Background: Mucolipidosis (ML) II and III alpha/beta are lysosomal disorders caused by mutations in the GNPTAB gene which encodes the alpha and beta subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase.
Method: To explore the clinical and molecular characteristics of the 20 ML II and III alpha/beta patients, clinical data was collected and GNPTAB gene was analyzed by nest PCR and direct Sanger-sequencing. The activity of several lysosomal enzymes was measured in the plasma.
Exploring the impact of variations in the mucolipin1 protein that result in mucolipidosis type 4 using the technique of molecular docking and dynamics simulation.
J Biomol Struct Dyn
December 2024
Department of Biotechnology, Sri Ramachandra Institute of Higher Education and Research (DU), Chennai, India.
Mucolipidosis type IV (MLIV) is classified as an exceptionally autosomal recessive condition due to a change in MCOLN1 that encodes the mucolipin-1 protein. ML-1 is a membrane protein comprising 6 Trans regions, which are situated at the LELs, a serine lipase area, and a nuclear localization sign. The characteristic features of the ML4 patients are mental retardation and skeletal deformities due to an increase in lipid molecules in the brain, other tissues, and organs.
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J Am Soc Nephrol
December 2024
Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.
Article Synopsis
- * A study reviewed 21 MLIV patients and conducted experiments on MLIV mouse models to understand kidney function, revealing that adult patients often have chronic kidney disease along with altered kidney functions and structure in the mice due to issues with endolysosomal function and autophagy.
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Two cases of type I sialidosis and a literature review.
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Department of Endocrinology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Genetics, Metabolism, Beijing, 100045, China.
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- The first patient, an 11-year-old girl, presented with short stature and vision problems linked to genetic mutations in the NEU1 gene, while the second patient, a 10-year-old boy, showed rapid weight gain and distinct visual impairments.
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Symmetric Bilateral Macular Atrophy in Mucolipidosis type 3: A Rare Manifestation.
Retin Cases Brief Rep
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Division of Ophthalmology, University of São Paulo Medical School (USP), Av. Dr Enéas de Carvalho Aguiar, 255, Cerqueira César, São Paulo, SP, 05403-001, Brazil.
Purpose: Describe a case of symmetric bilateral macular atrophy as an ophthalmological manifestation of Mucolipidosis type 3.
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