ArticleJIMD reports2020
An uncommon cause of early infantile liver disease and raised chitotriosidase.
Article in JIMD reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.
- A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum.Frontiers in genetics · 2022Pooled it
- From Genes to Treatment: Literature Review and Perspectives on Acid Sphingomyelinase Deficiency in Children.Diagnostics (Basel, Switzerland) · 2025Review
- SMPD1 gene variants in patients with β-Thalassemia major.Molecular biology reports · 2023Article
- Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.Orphanet journal of rare diseases · 2022Review
- Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Our subject presented at 11 months of age, following a varicella zoster infection, with acute on chronic liver disease and was found to have raised serum chitotriosidase. White cell enzyme analysis for Gaucher, Niemann Pick A, B and lysosomal acid lipase deficiency were normal. Niemann Pick type C (NPC) disease was considered as a provisional diagnosis and liver transplantation assessment deferred until recovery from varicella and results of mutational analysis of NPC gene were available. Liver biopsy at a later date showed findings suggestive of glycogen storage disease (GSD) type IV but he was too unstable for an urgent liver transplantation and sadly passed away at the age of 13 months. The classic hepatic subtype of glycogen storage disorder type IV (GSD IV) is a rare metabolic cause of early-onset liver disease and raised chitotriosidase. There are very few reports of raised chito in GSD IV. Liver transplantation has a favourable outcome for the hepatic subtype of GSD IV and early diagnosis in our subject could have potentially altered the outcome.
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Registered trials
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