PMID- 36582607
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230103
IS  - 1664-2295 (Print)
IS  - 1664-2295 (Electronic)
IS  - 1664-2295 (Linking)
VI  - 13
DP  - 2022
TI  - Methylmalonic acid levels in serum, exosomes, and urine and its association with 
      cblC type methylmalonic acidemia-induced cognitive impairment.
PG  - 1090958
LID - 10.3389/fneur.2022.1090958 [doi]
LID - 1090958
AB  - BACKGROUND: The cblC type methylmalonic acidemia is the most common methylmalonic 
      acidemia (MMA) in China. The biochemical characteristics of this disease include 
      elevated methylmalonic acid and homocysteine (HCY), increased propionylcarnitine 
      (C3), decreased free carnitine (C0). In this study, we aimed to clarify the roles 
      of these biomarkers in cblC-MMA induced cognitive impairment and evaluate the 
      capacity of methylmalonic acid in different fluids or exosomes to distinguish 
      cblC-MMA induced cognitive impairment. METHODS: 15 non-inherited 
      hyperhomocysteinemia (HHcy) patients, 42 cblC-MMA patients and 57 age- and 
      sex-matched healthy children were recruited in this study. The levels of HCY were 
      detected by an automatic immune analyzer. The levels of acylcarnitines and 
      methylmalonic acid were detected by tandem mass spectrometer. RESULTS: The main 
      findings were all biomarkers as HCY, acylcarnitines and methylmalonic acid had 
      capacities for distinguishing patients with cblC-MMA induced cognitive impairment 
      from healthy children. The methylmalonic acid in different fluids or exosomes had 
      good performances for distinguishing patients with cblC-MMA induced cognitive 
      impairment from HHcy patients. The methylmalonic acid in serum exosomes and 
      neuronal-derived exosomes were able to distinguishing cblC-MMA patients with 
      cognitive impairment from patients without cognitive impairment. The 
      methylmalonic acid in neuronal-derived exosomes might be helpful to evaluate the 
      severity of cblC-MMA induced cognitive impairment. DISCUSSION: Methylmalonic acid 
      levels in serum exosomes, especially in serum neuronal-derived exosomes, serve as 
      potential biomarkers for distinguishing cblC-MMA induced cognitive impairment.
CI  - Copyright (c) 2022 Sun, Jin, Rong, Song and Li.
FAU - Sun, Shuqi
AU  - Sun S
AD  - Department of Clinical Laboratory, Beijing Children's Hospital, Capital Medical 
      University, National Center for Children's Health, Beijing, China.
FAU - Jin, Hong
AU  - Jin H
AD  - Department of Neurology, Beijing Children's Hospital, Capital Medical University, 
      National Center for Children's Health, Beijing, China.
FAU - Rong, Yu
AU  - Rong Y
AD  - Department of Rehabilitation, Beijing Children's Hospital, Capital Medical 
      University, National Center for Children's Health, Beijing, China.
FAU - Song, Wenqi
AU  - Song W
AD  - Department of Clinical Laboratory, Beijing Children's Hospital, Capital Medical 
      University, National Center for Children's Health, Beijing, China.
FAU - Li, Qiliang
AU  - Li Q
AD  - Department of Clinical Laboratory, Beijing Children's Hospital, Capital Medical 
      University, National Center for Children's Health, Beijing, China.
LA  - eng
PT  - Journal Article
DEP - 20221213
PL  - Switzerland
TA  - Front Neurol
JT  - Frontiers in neurology
JID - 101546899
PMC - PMC9792485
OTO - NOTNLM
OT  - cblC
OT  - cognitive impairment
OT  - exosomes
OT  - methylmalonic acid
OT  - methylmalonic acidemia
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2022/12/31 06:00
MHDA- 2022/12/31 06:01
PMCR- 2022/12/13
CRDT- 2022/12/30 02:26
PHST- 2022/11/06 00:00 [received]
PHST- 2022/11/28 00:00 [accepted]
PHST- 2022/12/30 02:26 [entrez]
PHST- 2022/12/31 06:00 [pubmed]
PHST- 2022/12/31 06:01 [medline]
PHST- 2022/12/13 00:00 [pmc-release]
AID - 10.3389/fneur.2022.1090958 [doi]
PST - epublish
SO  - Front Neurol. 2022 Dec 13;13:1090958. doi: 10.3389/fneur.2022.1090958. 
      eCollection 2022.