ArticleAmerican journal of human genetics1998
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients.Frontiers in genetics · 2022Article
- Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center.Journal of pediatric genetics · 2021Article
- Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.Journal of lipid research · 2012Article
- Influence of multiple cysteines on human 3-hydroxy-3-methylglutaryl-CoA lyase activity and formation of inter-subunit adducts.Archives of biochemistry and biophysics · 2011Article
- Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America.Journal of inherited metabolic disease · 2008Article
- Evaluation of diagnostic fasting in the investigation of hypoglycemia in children omani experienc.Oman medical journal · 2007Article
- 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
- Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.Journal of inherited metabolic disease · 2005Article
- Molecular basis of 3-hydroxy-3-methylglutaric aciduria.Journal of physiology and biochemistry · 2003Article
- Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria.Journal of inherited metabolic disease · 2003Article
- Mitochondrial disease in superoxide dismutase 2 mutant mice.Proceedings of the National Academy of Sciences of the United States of America · 1999Article
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Authors and funding
11 authors.
Funding
Abstract
The hereditary deficiency of 3-hydroxy-3-methylglutaryl (HMG) CoA lyase (HL; OMIM 246450 [http://www3.ncbi.nlm.nih. gov:80/htbin-post/Omim/dispmim?246450]) results in episodes of hypoketotic hypoglycemia and coma and is reported to be frequent and clinically severe in Saudi Arabia. We found genetic diversity among nine Saudi HL-deficient probands: six were homozygous for the missense mutation R41Q, and two were homozygous for the frameshift mutation F305fs(-2). In 32 non-Saudi HL-deficient probands, we found three R41Q alleles and also discovered four other deleterious point mutations in codons 41 and 42: R41X, D42E, D42G, and D42H. In purified mutant recombinant HL, all four missense mutations in codons 41 and 42 cause a marked decrease in HL activity. We developed a screening procedure for HL missense mutations that yields residual activity at levels comparable to those obtained using purified HL peptides. Codons 41 and 42 are important for normal HL catalysis and account for a disproportionate 21 (26%) of 82 of mutant alleles in our group of HL-deficient probands.
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