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Hydroxymethylglutaric aciduria

MedGen UID:
735832
•Concept ID:
C1533587
•
Disease or Syndrome
SNOMED CT: Hydroxymethylglutaric aciduria (410059004)

Professional guidelines

PubMed

Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.
Thompson S, Hertzog A, Selvanathan A, Batten K, Lewis K, Nisbet J, Mitchell A, Dalkeith T, Billmore K, Moore F, Tolun AA, Devanapalli B, Bratkovic D, Hilditch C, Rahman Y, Tchan M, Bhattacharya K
Nutrients 2023 Jan 19;15(3) doi: 10.3390/nu15030531. PMID: 36771238Free PMC Article
Newborn screening for 3-hydroxy-3-methylglutaric aciduria using direct analysis in real-time mass spectrometry.
Huang Z, Liu Y, Huang X, Hu Z, Liu H, Wang L, Liu C, Ren Y
J Mass Spectrom 2019 Feb;54(2):134-140. doi: 10.1002/jms.4314. PMID: 30468550
Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
Mitchell GA, Jakobs C, Gibson KM, Robert MF, Burlina A, Dionisi-Vici C, Dallaire L
Prenat Diagn 1995 Aug;15(8):725-9. doi: 10.1002/pd.1970150807. PMID: 7479590

Recent clinical studies

Etiology

Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria.
Fu Z, Runquist JA, Forouhar F, Hussain M, Hunt JF, Miziorko HM, Kim JJ
J Biol Chem 2006 Mar 17;281(11):7526-32. Epub 2005 Dec 5 doi: 10.1074/jbc.M506880200. PMID: 16330550

Clinical prediction guides

Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria.
Fu Z, Runquist JA, Forouhar F, Hussain M, Hunt JF, Miziorko HM, Kim JJ
J Biol Chem 2006 Mar 17;281(11):7526-32. Epub 2005 Dec 5 doi: 10.1074/jbc.M506880200. PMID: 16330550

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