Glutamine energy substrate anaplerosis increases bone density in the Pah
Pahenu2
glutamine
osteopenia
oxidative phosphorylation
phenylketonuria
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Sep 2022
Sep 2022
Historique:
received:
19
04
2022
revised:
25
05
2022
accepted:
30
05
2022
entrez:
14
9
2022
pubmed:
15
9
2022
medline:
15
9
2022
Statut:
epublish
Résumé
Osteopenia is an under-investigated clinical presentation of phenylalanine hydroxylase (PAH)-deficient phenylketonuria (PKU). While osteopenia is not fully penetrant in human PKU, the Pah
Identifiants
pubmed: 36101821
doi: 10.1002/jmd2.12308
pii: JMD212308
pmc: PMC9458609
doi:
Types de publication
Journal Article
Langues
eng
Pagination
446-452Subventions
Organisme : BLRD VA
ID : I01 BX002490
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR076146
Pays : United States
Informations de copyright
© 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
No authors have competing interests related to these studies.
Références
Mol Genet Metab. 2016 Sep;119(1-2):1-7
pubmed: 26822703
Cell Metab. 2016 Apr 12;23(4):663-74
pubmed: 27050306
Proc Natl Acad Sci U S A. 1969 Aug;63(4):1365-9
pubmed: 5260939
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S363-71
pubmed: 20830525
Mol Genet Metab. 2022 Jun;136(2):111-117
pubmed: 35379539
Acta Paediatr. 1999 Dec;88(12):1348-51
pubmed: 10626520
Orphanet J Rare Dis. 2015 Dec 22;10:162
pubmed: 26693706
Sci Rep. 2019 Oct 31;9(1):15739
pubmed: 31673062
J Pediatr. 1974 Sep;85(3):383-5
pubmed: 4431499
Am J Clin Nutr. 1975 Feb;28(2):183-8
pubmed: 234671
J Inherit Metab Dis. 2016 May;39(3):363-372
pubmed: 26883219
J Inherit Metab Dis. 2014 Nov;37(6):875-80
pubmed: 25005329
Mol Genet Metab. 2018 Nov;125(3):193-199
pubmed: 30201326
Mol Genet Metab Rep. 2017 Apr 28;11:54-58
pubmed: 28491816
Lancet. 1953 Oct 17;265(6790):812-3
pubmed: 13098090
Am J Dis Child. 1964 May;107:523-32
pubmed: 14120417
Acta Paediatr. 1997 Mar;86(3):242-4
pubmed: 9099311
Mol Genet Metab Rep. 2018 Feb 03;15:30-35
pubmed: 30023287
Stem Cells Int. 2019 Sep 12;2019:8928934
pubmed: 31611919
Cell Metab. 2019 Apr 2;29(4):966-978.e4
pubmed: 30773468
Pediatrics. 1963 Sep;32:338-43
pubmed: 14063511
Radiology. 1962 Mar;78:394-8
pubmed: 13892050
Mol Genet Metab. 2021 Mar;132(3):173-179
pubmed: 33602601
Proc Soc Exp Biol Med. 1953 Mar;82(3):514-5
pubmed: 13047448
Ultrasound Med Biol. 2008 Jul;34(7):1049-52
pubmed: 18313203
Lab Invest. 2017 Sep;97(9):1072-1083
pubmed: 28737765
Orphanet J Rare Dis. 2015 Feb 15;10:17
pubmed: 25758373
Am J Clin Nutr. 1994 Feb;59(2):419-22
pubmed: 8310995
Mol Genet Metab. 2022 May;136(1):38-45
pubmed: 35367142
Acta Paediatr. 1998 Jan;87(1):61-3
pubmed: 9510449
Mol Genet Metab. 2012 Apr;105(4):566-70
pubmed: 22300845
J Neurochem. 1973 Feb;20(2):289-96
pubmed: 4698280
J Bone Miner Res. 2021 Mar;36(3):604-616
pubmed: 33253422
Biochem J. 1975 Apr;148(1):85-96
pubmed: 1156402
Mol Genet Metab. 2020 Apr;129(4):272-277
pubmed: 32151545