Metabolic Mysteries: Two adult siblings with liver disease and haematological abnormalities

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

Two adult siblings with unexplained liver disease, renal complications and intermittent haematological abnormalities but with one feature that seemed to argue against a metabolic diagnosis. In this Metabolic Mystery, Dr Greg Lynch explores how an attenuated presentation delayed recognition of the underlying disorder for years. Read the paper: https://doi.org/10.1002/jmd2.70079

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This episode was published on May 19, 2026.

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