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Article

A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis.

Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology - 1 Jan 2017

Yamashita Yuriko, Matsumoto Shinsuke, Hiramoto Ryugo, Komori Isao, Tanaka Takayuki, Nishikomori Ryuta, Heike Toshio, Umetsu Shuichiro, Inui Ayano

Abstract excerpt

We experienced a 6-year-old girl diagnosed with mevalonate kinase deficiency (MKD) who had cholestasis, anemia, and elevated inflammatory markers in neonatal period. She was admitted to our hospital because of fever and elevated inflammatory markers at 5 years 11months of age. Without using antibiotics, the fever and the inflammatory markers were spontaneously resolved. MKD was suspected from elevated serum IgD...

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PMID: 28603204
DOI: 10.2177/jsci.40.131

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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