Mevalonic aciduria

A rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

Cholestasis

Impairment of bile flow due to obstruction in bile ducts.


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PMID (PMCID)
15580635
 MIXED_SAMPLE Infant
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.
Rossi M, Vajro P, Iorio R, Battagliese A, Brunetti-Pierri N, Corso G, Di Rocco M, Ferrari P, Rivasi F, Vecchione R, Andria G, Parenti G.
Am J Med Genet A. 2005;132A(2):144-51.
Fetal hepatopathy, cholestasis, and isolated hypertransaminasemia can occur also in other disorders of cholesterol biosynthesis, such as mevalonic aciduria, desmosterolosis, Conradi-Hunermann syndrome, Greenberg dysplasia, and Pelger-Huet homozygosity syndrome.