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Yang, C. 3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4138 (accessed on 21 September 2026).
Yang C. 3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4138. Accessed September 21, 2026.
Yang, Catherine. "3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4138 (accessed September 21, 2026).
Yang, C. (2020, December 23). 3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4138
Yang, Catherine. "3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency." Encyclopedia. Web. 23 December, 2020.
3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency

3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ketones, which are compounds that are used for energy during periods without food (fasting).

genetic conditions

References

  1. Bischof F, Nägele T, Wanders RJ, Trefz FK, Melms A.3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult withleukoencephalopathy. Ann Neurol. 2004 Nov;56(5):727-30.
  2. Casals N, Gómez-Puertas P, Pié J, Mir C, Roca R, Puisac B, Aledo R, Clotet J, Menao S, Serra D, Asins G, Till J, Elias-Jones AC, Cresto JC, Chamoles NA,Abdenur JE, Mayatepek E, Besley G, Valencia A, Hegardt FG. Structural(betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase. JBiol Chem. 2003 Aug 1;278(31):29016-23.
  3. Gibson KM, Breuer J, Nyhan WL. 3-Hydroxy-3-methylglutaryl-coenzyme A lyasedeficiency: review of 18 reported patients. Eur J Pediatr. 1988 Dec;148(3):180-6.Review.
  4. Mitchell GA, Ozand PT, Robert MF, Ashmarina L, Roberts J, Gibson KM, WandersRJ, Wang S, Chevalier I, Plöchl E, Miziorko H. HMG CoA lyase deficiency:identification of five causal point mutations in codons 41 and 42, including afrequent Saudi Arabian mutation, R41Q. Am J Hum Genet. 1998 Feb;62(2):295-300.
  5. Pie J, Casals N, Puisac B, Hegardt FG. Molecular basis of3-hydroxy-3-methylglutaric aciduria. J Physiol Biochem. 2003 Dec;59(4):311-21.
  6. Pié J, López-Viñas E, Puisac B, Menao S, Pié A, Casale C, Ramos FJ, HegardtFG, Gómez-Puertas P, Casals N. Molecular genetics of HMG-CoA lyase deficiency.Mol Genet Metab. 2007 Nov;92(3):198-209.
  7. Yalçinkaya C, Dinçer A, Gündüz E, Fiçicioğlu C, Koçer N, Aydin A. MRI and MRS in HMG-CoA lyase deficiency. Pediatr Neurol. 1999 May;20(5):375-80. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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