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  2. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency - Wikipedia

    en.wikipedia.org/wiki/3-hydroxy-3-methylglutaryl...

    HMGCL is found on chromosome 1p36.11's short arm and codes for the enzyme 3-hydroxymethyl-3-methylglutaryl-coenzyme A lyase (HMG-CoA lyase). [4] [5] This mitochondrial enzyme contributes to the metabolism of dietary proteins by converting HMG-CoA into acetyl-CoA and acetoacetate, which is the last stage of the breakdown of leucine and fat for ...

  3. 3-Hydroxy-3-methylglutaryl-CoA lyase - Wikipedia

    en.wikipedia.org/wiki/3-hydroxy-3-methylglutaryl...

    3-Hydroxy-3-methylglutaryl-CoA lyase (or HMG-CoA lyase) is an enzyme (EC 4.1.3.4 that in human is encoded by the HMGCL gene located on chromosome 1. It is a key enzyme in ketogenesis (ketone body formation). It is a ketogenic enzyme in the liver that catalyzes the formation of acetoacetate from HMG-CoA within the mitochondria.

  4. HMG-CoA reductase - Wikipedia

    en.wikipedia.org/wiki/HMG-CoA_reductase

    HMG-CoA reductase (3-hydroxy-3-methyl-glutaryl-coenzyme A reductase, official symbol HMGCR) is the rate-controlling enzyme (NADH-dependent, EC 1.1.1.88; NADPH-dependent, EC 1.1.1.34) of the mevalonate pathway, the metabolic pathway that produces cholesterol and other isoprenoids.

  5. HMG-CoA - Wikipedia

    en.wikipedia.org/wiki/HMG-CoA

    β-Hydroxy β-methylglutaryl-CoA (HMG-CoA), also known as 3-hydroxy-3-methylglutaryl coenzyme A, is an intermediate in the mevalonate and ketogenesis pathways. It is formed from acetyl CoA and acetoacetyl CoA by HMG-CoA synthase. The research of Minor J. Coon and Bimal Kumar Bachhawat in the 1950s at University of Illinois led to its discovery ...

  6. Hydroxymethylglutaryl-CoA synthase - Wikipedia

    en.wikipedia.org/wiki/Hydroxymethylglutaryl-CoA...

    In biochemistry, hydroxymethylglutaryl-CoA synthase or HMG-CoA synthase EC 2.3.3.10 is an enzyme which catalyzes the reaction in which acetyl-CoA condenses with acetoacetyl-CoA to form 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA). This reaction comprises the second step in the mevalonate-dependent isoprenoid biosynthesis pathway.

  7. Smith–Lemli–Opitz syndrome - Wikipedia

    en.wikipedia.org/wiki/Smith–Lemli–Opitz_syndrome

    The rate limiting step of cholesterol synthesis is the conversion of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) to mevalonate, this is an early step in the mevalonate pathway catalyzed by HMG-CoA reductase. [10] Reaction scheme of squalene giving lanosterol. Multiple pathways leading to cholesterol from lanosterol, including the Kandutsch-Russel ...

  8. 3-Methylcrotonyl-CoA carboxylase deficiency - Wikipedia

    en.wikipedia.org/wiki/3-Methylcrotonyl-CoA...

    3-hydroxyisovalerylcarnitine is also elevated in other metabolism disorders such as 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency, biotinidase deficiency, multiple carboxylase deficiency, mitochondrial acetoacetyl-CoA thiolase deficiency and malonic aciduria. 3-Methylcrotonyl-CoA carboxylase deficiency is differentiated by the lack of other ...

  9. Limb–girdle muscular dystrophy - Wikipedia

    en.wikipedia.org/wiki/Limb–girdle_muscular...

    In terms of sarcoglycan deficiency there can be variance (if α-sarcoglycan and γ-sarcoglycan are not present then there's a mutation in LGMD2D). [ 4 ] The 2014 Evidence-based guideline summary: Diagnosis and treatment of limb–girdle and distal dystrophies indicates that individuals suspected of having the inherited disorder should have ...