Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria
Jazyk angličtina Země Spojené státy americké Médium print
Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem
PubMed
14518825
DOI
10.1023/a:1025169210121
Knihovny.cz E-zdroje
- MeSH
- dehydratasy nedostatek genetika MeSH
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- meglutol moč MeSH
- mutace MeSH
- předškolní dítě MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Názvy látek
- dehydratasy MeSH
- meglutol MeSH
- methylglutaconyl-CoA hydratase MeSH Prohlížeč
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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