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Article

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency.

Clinical genetics - 1 Jul 2026

Sperb-Ludwig Fernanda, Alegra Taciane, da Rosa Leonardo Martinello, Ludwig Nataniel Floriano, Velho Renata Voltolini, Schwartz Ida Vanessa Doederlein

Abstract excerpt

The LYSET gene encodes the LYSET transmembrane protein, which regulates lysosome biogenesis by activating the mannose-6-phosphate (M6P) pathway. This is an autosomal recessive, ultrarare, and severe progressive skeletal dysplasia with coarse facies, distended abdomen, short stature, and severe physical disability. In a diagnostic odyssey, we report a female patient, born in 2008, daughter of consanguineous...

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Identifiers

PMID: 41858182
DOI: 10.1111/cge.70165

Genes

LYSET

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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