Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency.
10.3760/cma.j.cn511374-20220611-00402
- Author:
Mengjun XIAO
1
;
Zhenhua XIE
;
Jing LIU
;
Xian LI
;
Qiang ZHANG
;
Zhenkun ZHANG
;
Dongxiao LI
Author Information
1. Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, the Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450003, China. li_dongxiao@sina.com.
- Publication Type:Journal Article
- MeSH:
Child;
Humans;
Acyl-CoA Dehydrogenase/genetics*;
Carnitine;
Genetic Testing;
Lipid Metabolism, Inborn Errors/genetics*;
Neonatal Screening
- From:
Chinese Journal of Medical Genetics
2023;40(7):787-794
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical and genetic characteristics of four patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
METHODS:Four children who had presented at the Children's Hospital Affiliated to Zhengzhou University between August 2019 and August 2021 were selected as the study subjects. Clinical data of the children were collected. The children were subjected to whole exome sequencing (WES).
RESULTS:All of the four children were diagnosed with MCADD. Blood amino acid and ester acyl carnitine spectrum test showed that the concentration of octanoyl carnitine (C8) was significantly increased. The main clinical manifestations included poor mental response (3 cases), intermittent diarrhea with abdominal pain (1 case), vomiting (1 case), increased transaminase (3 cases), and metabolic acidosis (2 cases). Five variants were identified by genetic testing, among which c.341A>G (p.Y114C) was unreported previously. Three were missense variants, one was frameshift variant and one was splicing variant.
CONCLUSION:The clinical heterogeneity of MCADD is obvious, and the severity of the disease may vary. WES can assist with the diagnosis. Delineation of the clinical symptoms and genetic characteristics of the disease can facilitate early diagnosis and treatment of the disease.
