ArticleJIMD reports2026
Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic
Article in JIMD reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- Limited benefit of liver transplantation in a boy with biallelic severe deficiency of hydroxymethylbilane synthase and review of prior reported cases.Molecular genetics and metabolism reports · 2026Article
- Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to BiallelicJIMD reports · 2026Article
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Authors and funding
7 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Leukodystrophy due to biallelic HMBS variants is a rare condition distinct from acute intermittent porphyria (AIP). It is characterised by progressive leukoencephalopathy rather than acute attacks of neurovisceral symptoms. We report the ongoing clinical progression of a patient with leukodystrophy due to homozygous variants in HMBS [c.251C>A, p.Ala84Asp] despite liver transplantation. We demonstrate that porphyrin precursor levels are unchanged following liver transplantation in the periphery and that porphyrin precursor levels are constitutively elevated in the cerebrospinal fluid and are not reduced by haem arginate therapy. Liver transplantation and hepatically directed therapies are not likely to be effective for leukodystrophy due to biallelic
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