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Deficiency of lyase

MedGen UID:
713855
•Concept ID:
C1291557
•
Disease or Syndrome
SNOMED CT: Deficiency of lyase (124592006)

Professional guidelines

PubMed

AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T
Orphanet J Rare Dis 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. PMID: 28100251Free PMC Article
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA
J Inherit Metab Dis 2017 Jan;40(1):49-74. Epub 2016 Oct 24 doi: 10.1007/s10545-016-9979-0. PMID: 27778219Free PMC Article

Recent clinical studies

Etiology

Rare forms of congenital adrenal hyperplasia.
Gurpinar Tosun B, Guran T
Clin Endocrinol (Oxf) 2024 Oct;101(4):371-385. Epub 2023 Dec 21 doi: 10.1111/cen.15009. PMID: 38126084

Diagnosis

Rare forms of congenital adrenal hyperplasia.
Gurpinar Tosun B, Guran T
Clin Endocrinol (Oxf) 2024 Oct;101(4):371-385. Epub 2023 Dec 21 doi: 10.1111/cen.15009. PMID: 38126084

Therapy

Phosphorylated NFS1 weakens oxaliplatin-based chemosensitivity of colorectal cancer by preventing PANoptosis.
Lin JF, Hu PS, Wang YY, Tan YT, Yu K, Liao K, Wu QN, Li T, Meng Q, Lin JZ, Liu ZX, Pu HY, Ju HQ, Xu RH, Qiu MZ
Signal Transduct Target Ther 2022 Feb 28;7(1):54. doi: 10.1038/s41392-022-00889-0. PMID: 35221331Free PMC Article
Cysteine depletion induces pancreatic tumor ferroptosis in mice.
Badgley MA, Kremer DM, Maurer HC, DelGiorno KE, Lee HJ, Purohit V, Sagalovskiy IR, Ma A, Kapilian J, Firl CEM, Decker AR, Sastra SA, Palermo CF, Andrade LR, Sajjakulnukit P, Zhang L, Tolstyka ZP, Hirschhorn T, Lamb C, Liu T, Gu W, Seeley ES, Stone E, Georgiou G, Manor U, Iuga A, Wahl GM, Stockwell BR, Lyssiotis CA, Olive KP
Science 2020 Apr 3;368(6486):85-89. doi: 10.1126/science.aaw9872. PMID: 32241947Free PMC Article
Homocysteine and Hyperhomocysteinaemia.
Zaric BL, Obradovic M, Bajic V, Haidara MA, Jovanovic M, Isenovic ER
Curr Med Chem 2019;26(16):2948-2961. doi: 10.2174/0929867325666180313105949. PMID: 29532755
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA
J Inherit Metab Dis 2017 Jan;40(1):49-74. Epub 2016 Oct 24 doi: 10.1007/s10545-016-9979-0. PMID: 27778219Free PMC Article
Temozolomide: mechanisms of action, repair and resistance.
Zhang J, Stevens MF, Bradshaw TD
Curr Mol Pharmacol 2012 Jan;5(1):102-14. doi: 10.2174/1874467211205010102. PMID: 22122467

Prognosis

Targeted macrophage phagocytosis by Irg1/itaconate axis improves the prognosis of intracerebral hemorrhagic stroke and peritonitis.
Luo Z, Sheng Z, Hu L, Shi L, Tian Y, Zhao X, Yang W, Xiao Z, Shen D, Wu W, Lan T, Zhao B, Wang X, Zhuang N, Zhang JN, Wang Y, Lu Y, Wang L, Zhang C, Wang P, An J, Yang F, Li Q
EBioMedicine 2024 Mar;101:104993. Epub 2024 Feb 6 doi: 10.1016/j.ebiom.2024.104993. PMID: 38324982Free PMC Article
Anti-Islet Autoantibodies in Type 1 Diabetes.
Kawasaki E
Int J Mol Sci 2023 Jun 11;24(12) doi: 10.3390/ijms241210012. PMID: 37373160Free PMC Article
Translational Pharmacokinetic/Pharmacodynamic Model for mRNA-3927, an Investigational Therapeutic for the Treatment of Propionic Acidemia.
Attarwala H, Lumley M, Liang M, Ivaturi V, Senn J
Nucleic Acid Ther 2023 Apr;33(2):141-147. Epub 2022 Dec 27 doi: 10.1089/nat.2022.0036. PMID: 36577040Free PMC Article
Adenylosuccinate lyase deficiency.
Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A
J Inherit Metab Dis 2015 Mar;38(2):231-42. Epub 2014 Aug 12 doi: 10.1007/s10545-014-9755-y. PMID: 25112391Free PMC Article
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
Balmer C, Pandey AV, Rüfenacht V, Nuoffer JM, Fang P, Wong LJ, Häberle J
Hum Mutat 2014 Jan;35(1):27-35. Epub 2013 Nov 25 doi: 10.1002/humu.22469. PMID: 24166829

Clinical prediction guides

Anti-Islet Autoantibodies in Type 1 Diabetes.
Kawasaki E
Int J Mol Sci 2023 Jun 11;24(12) doi: 10.3390/ijms241210012. PMID: 37373160Free PMC Article
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase-deficient renal cell carcinoma.
Liang J, Sun G, Pan X, Zhang M, Shen P, Zhu S, Zhao J, Zheng L, Zhao J, Chen Y, Yin X, Chen J, Hu X, Zeng Y, Chen J, Wang Y, Liu Z, Yao J, Su M, Huang R, Liao B, Wei Q, Li X, Zhou Q, Liu J, Shen Y, Liu Z, Chen N, Zeng H, Zhang X
Genome Med 2023 May 2;15(1):31. doi: 10.1186/s13073-023-01182-7. PMID: 37131267Free PMC Article
Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency.
Tai CH, Lee NC, Chien YH, Byrne BJ, Muramatsu SI, Tseng SH, Hwu WL
Mol Ther 2022 Feb 2;30(2):509-518. Epub 2021 Nov 8 doi: 10.1016/j.ymthe.2021.11.005. PMID: 34763085Free PMC Article
Heme biosynthesis and the porphyrias.
Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free PMC Article
A Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial of the Efficacy and Safety of the Oral Soluble Guanylate Cyclase Stimulator: The VICTORIA Trial.
Armstrong PW, Roessig L, Patel MJ, Anstrom KJ, Butler J, Voors AA, Lam CSP, Ponikowski P, Temple T, Pieske B, Ezekowitz J, Hernandez AF, Koglin J, O'Connor CM
JACC Heart Fail 2018 Feb;6(2):96-104. Epub 2017 Oct 11 doi: 10.1016/j.jchf.2017.08.013. PMID: 29032136

Recent systematic reviews

Burden and severity of disease of aromatic L-amino acid decarboxylase deficiency: a systematic literature review.
Buesch K, Zhang R, Szczepańska K, Veličković V, Turner L, Despotović M, Đorđević B, Russell A
Curr Med Res Opin 2022 Nov;38(11):1871-1882. Epub 2022 May 18 doi: 10.1080/03007995.2022.2072090. PMID: 35485958
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA
J Inherit Metab Dis 2017 Jan;40(1):49-74. Epub 2016 Oct 24 doi: 10.1007/s10545-016-9979-0. PMID: 27778219Free PMC Article
Newborn screening for homocystinuria.
Walter JH, Jahnke N, Remmington T
Cochrane Database Syst Rev 2015 Oct 1;2015(10):CD008840. doi: 10.1002/14651858.CD008840.pub4. PMID: 26423208Free PMC Article
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
Moorthie S, Cameron L, Sagoo GS, Bonham JR, Burton H
J Inherit Metab Dis 2014 Nov;37(6):889-98. Epub 2014 Jul 15 doi: 10.1007/s10545-014-9729-0. PMID: 25022222
Newborn screening for homocystinuria.
Walter JH, Jahnke N, Remmington T
Cochrane Database Syst Rev 2013 Aug 1;(8):CD008840. doi: 10.1002/14651858.CD008840.pub3. PMID: 23908001

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