Compound heterozygous variants in LIPT1 causing lipoyltransferase 1 deficiency in a newborn: a case report and literature review
10.3760/cma.j.cn113903-20231109-00314
- VernacularTitle:LIPT1复合杂合变异致新生儿硫辛酰基转移酶-1缺乏症1例并文献复习
- Author:
Yingying ZHU
1
;
Bowen WENG
;
Wuhen XU
;
Li GAO
;
Hao HU
;
Xiaohui GONG
;
Jingjing SUN
Author Information
1. 上海市儿童医院（上海交通大学医学院附属儿童医院）新生儿科，上海 200062
- Keywords:
Lipoyltransferase 1 deficiency;
LIPT1 gene;
Lipoic acid;
Lactic acidosis
- From:
Chinese Journal of Perinatal Medicine
2024;27(5):411-416
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical phenotype and genotype characteristics of lipoyltransferase 1 deficiency (LIPT1D).Methods:A retrospective analysis of the clinical data was conducted for one case of LIPT1D, admitted to the Department of Neonatology at Shanghai Children's Hospital on May 7, 2023. Key terms "lipoyltransferase 1 deficiency", " LIPT1", and "lipoic acid" were used to search national databases including CNKI, Wanfang Data, VIP, and Yiigle; and international databases PubMed, Embase, and Web of Science until September 15, 2023, to summarize the clinical presentations, biochemical phenotypes, and genotypic characteristics of LIPT1D. Descriptive statistical analysis was employed. Results:(1) The case concerned: At 1.5 h after birth, the infant exhibited cyanosis and poor responsiveness, presenting with uncorrectable metabolic acidosis (blood pH value 6.9, base excess -27 mmol/L, bicarbonate 5.7 mmol/L), and hyperlactatemia (the highest was 24 mmol/L). The condition progressed rapidly, and the infant died 9 h after birth. Whole exome sequencing performed 6 h postnatally identified compound heterozygous variants in the LIPT1 gene (NM_001204830.1) in the infant. Variants c.986C>A (p.Ser329*) from the mother and c.405_406del (p.Arg135Serfs*18) from the father were detected, both suspected to be pathogenic. (2) Literature review: A review of the literature identified seven cases of LIPT1D caused by LIPT1 gene mutations, totaling eight cases including the current one. The main presentations of LIPT1D in these infants were hyperlactatemia, metabolic acidosis, neurodevelopmental delay, and epilepsy, with four cases presenting in the neonatal period and resulting in death. Conclusions:The primary clinical manifestations of LIPT1D are severe hyperlactatemia, metabolic acidosis, and neurological involvement, potentially leading to early neonatal death. Whole-exome sequencing is instrumental in diagnosing this condition.
