ArticleJournal of inherited metabolic disease2003
Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria.
Article in Journal of inherited metabolic disease, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 17 citations in OpenAlex.
- 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.Orphanet journal of rare diseases · 2020Article
- Induction of a Proinflammatory Response in Cortical Astrocytes by the Major Metabolites Accumulating in HMG-CoA Lyase Deficiency: the Role of ERK Signaling Pathway in Cytokine Release.Molecular neurobiology · 2016Article
- Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.BMC medical genetics · 2006Article
- A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.Journal of inherited metabolic disease · 2006Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
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Abstract
Two methods, spectrophotometry and HPLC, were compared in the analyses of 3-hydroxy-3-methylglutaryl-CoA lyase (HL) activity in three unrelated Czech patients with 3-hydroxy-3-methylglutaric (HMG) aciduria and their family members. The HL activities in cultured fibroblasts and/or isolated lymphocytes of probands were below the detection limits of the methods used. Both methods were also suitable for recognition of all heterozygotes in affected families. We searched for pathogenic mutations in the HL gene. Molecular analyses revealed that two patients are homozygous for known mutation H233R and R41Q, respectively, whereas the third patient is a compound heterozygote for the mutation H233R and a novel mutation Pro9fs(-1). This study expands the knowledge of the genotypic variability of the HMG aciduria.
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