Beta‐mannosidosis presenting predominantly with recurrent pulmonary infections, hemorrhage, and cystic lesions

He, Ruxuan; Liu, Jinrong; Xu, Hui; Tang, Xiaolei; Liu, Hui; Zhao, Shunying

doi:10.1002/ppul.26310

Cited by 1 publication

(1 citation statement)

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“…Common symptoms include intellectual disability, and some may experience delayed motor development and seizures. Behavioral problems, such as hyperactivity, impulsivity, aggressiveness, or a tendency to depression; respiratory and ear infections; hearing loss; speech impairment; swallowing difficulties; and hypotonia, are additional challenges faced by those with β-mannosidosis and are also common among patients who may exhibit introverted behavior [298,299]. Distinctive facial features and the presence of small angiokeratomas, formed by clusters of enlarged blood vessels, are also observed in individuals with this condition.…”

Section: β-Mannosidosismentioning

confidence: 99%

Lysosomal Dysfunction: Connecting the Dots in the Landscape of Human Diseases

Uribe-Carretero,

Rey,

Fuentes

et al. 2024

Biology

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Lysosomes are the main organelles responsible for the degradation of macromolecules in eukaryotic cells. Beyond their fundamental role in degradation, lysosomes are involved in different physiological processes such as autophagy, nutrient sensing, and intracellular signaling. In some circumstances, lysosomal abnormalities underlie several human pathologies with different etiologies known as known as lysosomal storage disorders (LSDs). These disorders can result from deficiencies in primary lysosomal enzymes, dysfunction of lysosomal enzyme activators, alterations in modifiers that impact lysosomal function, or changes in membrane-associated proteins, among other factors. The clinical phenotype observed in affected patients hinges on the type and location of the accumulating substrate, influenced by genetic mutations and residual enzyme activity. In this context, the scientific community is dedicated to exploring potential therapeutic approaches, striving not only to extend lifespan but also to enhance the overall quality of life for individuals afflicted with LSDs. This review provides insights into lysosomal dysfunction from a molecular perspective, particularly in the context of human diseases, and highlights recent advancements and breakthroughs in this field.

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Section: β-Mannosidosismentioning

confidence: 99%