D-bifunctional protein deficiency caused by
10.7499/j.issn.1008-8830.2107158
- Author:
Shu-Mei YANG
1
;
Chuan-Ding CAO
1
;
Ying DING
1
;
Ming-Jie WANG
1
;
Shao-Jie YUE
1
Author Information
1. Department of Neonatology, Xiangya Hospital, Central South University, Changsha 410008, China (Yue S-J, Email: shaojieyue@163.com).
- Publication Type:Journal Article
- Keywords:
D-bifunctional protein deficiency;
Neonate;
Seizure;
Very-long-chain fatty acid
- MeSH:
Genetic Testing;
Humans;
Infant, Newborn;
Male;
Muscle Hypotonia;
Mutation;
Peroxisomal Multifunctional Protein-2/genetics*;
Protein Deficiency/genetics*
- From:
Chinese Journal of Contemporary Pediatrics
2021;23(10):1058-1063
- CountryChina
- Language:English
-
Abstract:
A 15-day-old boy was admitted to the hospital due to repeated convulsions for 14 days. The main clinical manifestations were uncontrolled seizures, hypoergia, feeding difficulties, limb hypotonia, and bilateral hearing impairment. Clinical neurophysiology showed reduced brainstem auditory evoked potential on both sides and burst-suppression pattern on electroencephalogram. Measurement of very-long-chain fatty acids in serum showed that C26:0 was significantly increased. Genetic testing showed a pathogenic compound heterozygous mutation, c.101C>T(p.Ala34Val) and c.1448_1460del(p.Ala483Aspfs*37), in the
