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• W1488332549 abstract "The HMG-CoA lyase (HL) deficiency or 3-hydroxy-3-methylglutaric aciduria (MIM 246450) is an inborn error of intermediary metabolism that was first described in 1976 by Faull et al (Faull et al., 1976). Because its clinical manifestations, it has been included within the Sudden Infant Death Syndrome (Wilson et al., 1984). At present, it is considered a rare disease (<1/100,000 live neonates) that should be diagnosed at early age because there is a simple and effective treatment (Watson et al., 2006). HL is a mitochondrial enzyme that catalyzes the cleavage of HMG-CoA to acetyl-CoA and acetoacetate, which is the common final step of ketogenesis and leucine catabolism (Figure 1). Patients with this disease suffer on the one hand, the absence of ketone bodies as alternative energy source of glucose and on the other hand, the accumulation of toxic metabolites of leucine catabolism. The most frequently affected organs are the liver and the brain, but the pancreas and the heart can also be involved. This chapter discusses a recent study of differential expression of human HL in liver, pancreas, testis, heart, skeletal muscle and brain that can help us to understand the consequences of this deficiency (Puisac et al., 2010). It is an autosomal recessive disease caused by mutations in the HMGCL gene. The study of these mutations and patients origin helps to draw a map of incidence in which three countries stand out for their high frequency: Saudi Arabia (Ozand et al., 1992), Spain and Portugal (Menao et al., 2009). At present, the functional study of missense mutations is possible thanks to the knowledge of the structure (Fu et al., 2006) and mechanism of the enzyme (Fu et al., 2010) and also by the development of a method of simple and efficient expression of the protein (Menao et al., 2009). Finally, despite the current knowledge of the disease, genotype-phenotype correlations are difficult to establish." @default.
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• W1488332549 date "2011-11-21" @default.
• W1488332549 modified "2023-10-16" @default.
• W1488332549 title "HMG–CoA Lyase Deficiency" @default.
• W1488332549 cites W1488888675 @default.
• W1488332549 cites W1550090553 @default.
• W1488332549 cites W1568989609 @default.
• W1488332549 cites W1579258539 @default.
• W1488332549 cites W1587185566 @default.
• W1488332549 cites W1769076618 @default.
• W1488332549 cites W1785567941 @default.
• W1488332549 cites W1875092895 @default.
• W1488332549 cites W1968733054 @default.
• W1488332549 cites W1971428551 @default.
• W1488332549 cites W1972049368 @default.
• W1488332549 cites W1972860155 @default.
• W1488332549 cites W1973193064 @default.
• W1488332549 cites W1975231476 @default.
• W1488332549 cites W1975287597 @default.
• W1488332549 cites W1976530224 @default.
• W1488332549 cites W1976680127 @default.
• W1488332549 cites W1978003660 @default.
• W1488332549 cites W1978316840 @default.
• W1488332549 cites W1979072930 @default.
• W1488332549 cites W1982404045 @default.
• W1488332549 cites W1986289340 @default.
• W1488332549 cites W1988338922 @default.
• W1488332549 cites W1993928056 @default.
• W1488332549 cites W1997614142 @default.
• W1488332549 cites W1999518906 @default.
• W1488332549 cites W2001387453 @default.
• W1488332549 cites W2001403394 @default.
• W1488332549 cites W2006454401 @default.
• W1488332549 cites W2016971914 @default.
• W1488332549 cites W2017656741 @default.
• W1488332549 cites W2022069061 @default.
• W1488332549 cites W2025068265 @default.
• W1488332549 cites W2026893346 @default.
• W1488332549 cites W2027954836 @default.
• W1488332549 cites W2028978826 @default.
• W1488332549 cites W2030766217 @default.
• W1488332549 cites W2035530977 @default.
• W1488332549 cites W2037657088 @default.
• W1488332549 cites W2039276318 @default.
• W1488332549 cites W2040632746 @default.
• W1488332549 cites W2044270439 @default.
• W1488332549 cites W2045658006 @default.
• W1488332549 cites W2055031368 @default.
• W1488332549 cites W2055549733 @default.
• W1488332549 cites W2056481296 @default.
• W1488332549 cites W2057586041 @default.
• W1488332549 cites W2062261894 @default.
• W1488332549 cites W2066607752 @default.
• W1488332549 cites W2074021937 @default.
• W1488332549 cites W2079203423 @default.
• W1488332549 cites W2081720864 @default.
• W1488332549 cites W2083863052 @default.
• W1488332549 cites W2084054959 @default.
• W1488332549 cites W2101688786 @default.
• W1488332549 cites W2105803198 @default.
• W1488332549 cites W2125780760 @default.
• W1488332549 cites W2128105641 @default.
• W1488332549 cites W2129031582 @default.
• W1488332549 cites W2135627641 @default.
• W1488332549 cites W2137903960 @default.
• W1488332549 cites W2145615169 @default.
• W1488332549 cites W2155236217 @default.
• W1488332549 cites W2164961553 @default.
• W1488332549 cites W2169499583 @default.
• W1488332549 cites W2170084714 @default.
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• W1488332549 cites W217264290 @default.
• W1488332549 cites W2399999247 @default.
• W1488332549 cites W2414019239 @default.
• W1488332549 cites W2417764132 @default.
• W1488332549 cites W29824658 @default.
• W1488332549 cites W3123582176 @default.
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• W1488332549 doi "https://doi.org/10.5772/20252" @default.
• W1488332549 hasPublicationYear "2011" @default.
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