Professor Jayesh Sheth discusses two patients diagnosed with MLD following milder presentations, both related to novel missense variants in the PSAP gene. 

Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India
Jayesh Sheth, et al
https://doi.org/10.1002/jmd2.12374

Shortcast: Late infantile & adult-onset MLD due to novel missense variants in the PSAP gene

Dr Laura Adang returns to the podcast, this time discussing diagnostic delays in early onset forms of metachromatic leukodystrophy and explains why the only logical route to prompt diagnosis is newborn screening and how gene therapy might lead to a 'normal' life for children, if only we can find them early enough.

Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data Approach
Ali Mohajer, et al
https://doi.org/10.1002/jimd.70049

Diagnostic delay in Metachromatic Leukodystrophy

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New tracks tagged #metachromatic leukodystrophy