• Je něco špatně v tomto záznamu ?

Elevated homocysteine levels: What inborn errors of metabolism might we be missing

A. Gonzalez, GH. Smith, MJ. Gambello, J. Sokolová, V. Kožich, H. Li

. 2023 ; 191 (1) : 130-134. [pub] 20221022

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc22032050

Elevated total plasma homocysteine (hyperhomocysteinemia) is a marker of cardiovascular, thrombotic, and neuropsychological disease. It has multiple causes, including the common nutritional vitamin B12 or folate deficiency. However, some rare but treatable, inborn errors of metabolism (IEM) characterized by hyperhomocysteinemia can be missed due to variable presentations and the lack of awareness. The aim of this study is to identify undiagnosed IEM in adults with significantly elevated homocysteine using key existing clinical data points, then IEM specific treatment can be offered to improve outcome. We conducted a retrospective study with data mining and chart review of patients with plasma total homocysteine >30 μmol/L over a two-year period. We offer biochemical and genetic testing to patients with significant hyperhomocysteinemia without a clear explanation to diagnose IEM. We identified 22 subjects with significant hyperhomocysteinemia but no clear explanation. Subsequently, we offered genetic testing to seven patients and diagnosed one patient with classic homocystinuria due to cystathionine beta-synthase deficiency. With treatment, she lowered her plasma homocysteine and improved her health. This study stresses the importance of a thorough investigation of hyperhomocysteinemia in adults to identify rare but treatable IEM. We propose a metabolic evaluation algorithm for elevated homocysteine levels.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc22032050
003      
CZ-PrNML
005      
20230131151242.0
007      
ta
008      
230120s2023 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1002/ajmg.a.63001 $2 doi
035    __
$a (PubMed)36271828
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a Gonzalez, Aixa $u Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA $u Department of Pediatrics, Genetics Section, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, Arkansas, USA
245    10
$a Elevated homocysteine levels: What inborn errors of metabolism might we be missing / $c A. Gonzalez, GH. Smith, MJ. Gambello, J. Sokolová, V. Kožich, H. Li
520    9_
$a Elevated total plasma homocysteine (hyperhomocysteinemia) is a marker of cardiovascular, thrombotic, and neuropsychological disease. It has multiple causes, including the common nutritional vitamin B12 or folate deficiency. However, some rare but treatable, inborn errors of metabolism (IEM) characterized by hyperhomocysteinemia can be missed due to variable presentations and the lack of awareness. The aim of this study is to identify undiagnosed IEM in adults with significantly elevated homocysteine using key existing clinical data points, then IEM specific treatment can be offered to improve outcome. We conducted a retrospective study with data mining and chart review of patients with plasma total homocysteine >30 μmol/L over a two-year period. We offer biochemical and genetic testing to patients with significant hyperhomocysteinemia without a clear explanation to diagnose IEM. We identified 22 subjects with significant hyperhomocysteinemia but no clear explanation. Subsequently, we offered genetic testing to seven patients and diagnosed one patient with classic homocystinuria due to cystathionine beta-synthase deficiency. With treatment, she lowered her plasma homocysteine and improved her health. This study stresses the importance of a thorough investigation of hyperhomocysteinemia in adults to identify rare but treatable IEM. We propose a metabolic evaluation algorithm for elevated homocysteine levels.
650    _2
$a lidé $7 D006801
650    _2
$a dospělí $7 D000328
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a kyselina listová $7 D005492
650    _2
$a retrospektivní studie $7 D012189
650    _2
$a vitamin B 12 $x terapeutické užití $7 D014805
650    12
$a hyperhomocysteinemie $x diagnóza $x genetika $7 D020138
650    12
$a homocystinurie $x diagnóza $x genetika $7 D006712
650    12
$a vrozené poruchy metabolismu $x diagnóza $x genetika $7 D008661
650    _2
$a homocystein $7 D006710
655    _2
$a časopisecké články $7 D016428
700    1_
$a Smith, Geoffrey Hughes $u Department of Pathology, Emory University, Emory University School of Medicine, Atlanta, Georgia, USA
700    1_
$a Gambello, Michael J $u Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA $u Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA
700    1_
$a Sokolová, Jitka $u Department of Pediatrics and Inherited Metabolic Disorders, Charles University-First Faculty of Medicine and General University Hospital in Prague, Prague, Czechia
700    1_
$a Kožich, Viktor $u Department of Pediatrics and Inherited Metabolic Disorders, Charles University-First Faculty of Medicine and General University Hospital in Prague, Prague, Czechia
700    1_
$a Li, Hong $u Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA $u Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA $1 https://orcid.org/0000000293670761
773    0_
$w MED00012678 $t American journal of medical genetics. Part A $x 1552-4833 $g Roč. 191, č. 1 (2023), s. 130-134
856    41
$u https://pubmed.ncbi.nlm.nih.gov/36271828 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y p $z 0
990    __
$a 20230120 $b ABA008
991    __
$a 20230131151238 $b ABA008
999    __
$a ok $b bmc $g 1891055 $s 1183385
BAS    __
$a 3
BAS    __
$a PreBMC-MEDLINE
BMC    __
$a 2023 $b 191 $c 1 $d 130-134 $e 20221022 $i 1552-4833 $m American journal of medical genetics. Part A $n Am J Med Genet $x MED00012678
LZP    __
$a Pubmed-20230120

Najít záznam

Citační ukazatele

Možnosti archivace