PMID- 37606529
OWN - NLM
STAT- Publisher
LR  - 20231016
IS  - 1097-4598 (Electronic)
IS  - 0148-639X (Linking)
VI  - 68
IP  - 5
DP  - 2023 Nov
TI  - Hyperhomocysteinemia in patients with riboflavin-responsive multiple acyl-CoA 
      dehydrogenase deficiency.
PG  - 750-757
LID - 10.1002/mus.27960 [doi]
AB  - INTRODUCTION/AIMS: Riboflavin-responsive multiple acyl-CoA dehydrogenase 
      deficiency (RR-MADD) is an autosomal recessive disease chiefly caused by variants 
      of ETFDH affecting fatty acid metabolism. In our cohort, hyperhomocysteinemia 
      (HHcy) was common. In this study we aimed to identify the association between 
      RR-MADD and HHcy. METHODS: We performed a retrospective review of 13 patients 
      with RR-MADD. Thirty-three healthy controls were recruited, and logistic 
      regression was used to investigate the association between RR-MADD and HHcy. 
      Muscle tissues from six patients and six controls without myopathies were 
      collected to measure the levels of flavin adenine dinucleotide (FAD), an active 
      form of riboflavin. Whole-exome sequencing was performed to identify the 
      disease-associated variants. RESULTS: The RR-MADD patients had a higher 
      prevalence of HHcy (9 of 12) than controls (6 of 33, P < .001). In the 
      multivariate analysis, RR-MADD was positively related to HHcy (P = .014). 
      Muscular FAD levels were decreased in RR-MADD patients (P = .006). Thirteen 
      variants (8 reported and 5 novel) were identified in ETFDH. Of these, c.250G > A 
      was the most common pathogenic variant with an allelic frequency of 4 of 20. 
      DISCUSSION: HHcy was associated with RR-MADD and may aid in the diagnosis of the 
      disease. Our findings expand the mutational spectrum of RR-MADD.
CI  - (c) 2023 Wiley Periodicals LLC.
FAU - Zhang, Huiqiu
AU  - Zhang H
AD  - Department of Neurology, First Hospital, Shanxi Medical University, Taiyuan, 
      China.
AD  - First Clinical Medical College, Shanxi Medical University, Taiyuan, China.
FAU - Zhao, Rongjuan
AU  - Zhao R
AD  - Department of Neurology, First Hospital, Shanxi Medical University, Taiyuan, 
      China.
FAU - Ma, Jing
AU  - Ma J
AD  - Department of Neurology, First Hospital, Shanxi Medical University, Taiyuan, 
      China.
AD  - First Clinical Medical College, Shanxi Medical University, Taiyuan, China.
FAU - Zhang, Jingfei
AU  - Zhang J
AD  - Department of Neurology, First Hospital, Shanxi Medical University, Taiyuan, 
      China.
AD  - First Clinical Medical College, Shanxi Medical University, Taiyuan, China.
FAU - Wang, Juan
AU  - Wang J
AD  - Department of Neurology, First Hospital, Shanxi Medical University, Taiyuan, 
      China.
FAU - Chang, Xueli
AU  - Chang X
AD  - Department of Neurology, First Hospital, Shanxi Medical University, Taiyuan, 
      China.
FAU - Guo, Junhong
AU  - Guo J
AD  - Department of Neurology, First Hospital, Shanxi Medical University, Taiyuan, 
      China.
FAU - Zhang, Wei
AU  - Zhang W
AUID- ORCID: 0000-0003-4434-5599
AD  - Department of Neurology, First Hospital, Shanxi Medical University, Taiyuan, 
      China.
LA  - eng
GR  - 20210302123245/Shanxi Science and Technology Department/
PT  - Journal Article
DEP - 20230822
PL  - United States
TA  - Muscle Nerve
JT  - Muscle & nerve
JID - 7803146
SB  - IM
OTO - NOTNLM
OT  - electron-transfer flavoprotein dehydrogenase
OT  - inheritance mode
OT  - riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
OT  - variant
EDAT- 2023/08/22 13:42
MHDA- 2023/08/22 13:42
CRDT- 2023/08/22 09:34
PHST- 2023/08/06 00:00 [revised]
PHST- 2023/03/23 00:00 [received]
PHST- 2023/08/07 00:00 [accepted]
PHST- 2023/08/22 13:42 [pubmed]
PHST- 2023/08/22 13:42 [medline]
PHST- 2023/08/22 09:34 [entrez]
AID - 10.1002/mus.27960 [doi]
PST - ppublish
SO  - Muscle Nerve. 2023 Nov;68(5):750-757. doi: 10.1002/mus.27960. Epub 2023 Aug 22.