Neonatal sudden death caused by a novel heterozygous mutation in SLC25A20 gene: A case report and brief literature review.

Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare and life-threatening autosomal recessive disorder of fatty acid ß-oxidation (FAO). Most patients with CACTD develop severe metabolic decompensation which deteriorates progressively and rapidly, causing death in infancy or childhood. As CACTD in some patients is asymptomatic or only with some nonspecific symptoms, the diagnosis is easy to be ignored, resulting in sudden death, which often triggers medical disputes. Herein, we report a case of neonatal sudden death with CACTD. The neonate showed a series of severe metabolic crisis, deteriorated rapidly and eventually died 3 days after delivery. Tandem mass spectrometry (MS-MS) screening of dry blood spots before death showed that the level of long-chain acylcarnitines, especially C12-C18 acylcarnitine, was increased significantly, and therefore a diagnosis of inherited metabolic disease (IMD) was suspected. Autopsy and histopathological results demonstrated that there were diffuse vacuoles in the heart and liver of the deceased. Mutation analysis revealed that the patient was a compound heterozygote with c.199-10 T > G and a novel c.1A > T mutation in the SLC25A20 gene. Pathological changes such as heart failure, arrhythmia and cardiac arrest related to mitochondrial FAO disorders are the direct cause of death, while gene mutation is the underlying cause of death.

[Sequencing of mitochondrial DNA CO II gene in carrion-breeding flies and larvae in Zhengzhou].

OBJECTIVE: Using CO II sequences to identify common species of carrion-breeding flies and larvae. METHODS: flies and larvae were collected on the corpses of rats in Zhengzhou district, DNA was extracted, CO II sequences were amplified and sequenced. Clustalx and MEGA 4.0 software were used to analyze the gene sequences and to construct the phylogenetic trees. RESULTS: There was no significant gene difference between adults and larvae. COII gene sequences could be used to identify Boettcherisca peregrina, Aldrichina grahami and Lucilia illustris but they could not distinguish Lucilia cuprina from the Lucilia sericata because of their close evolutionary distance and single nucleotide polymorphisms in aldrichina grahami and Lucilia illustris populations were found. CONCLUSION: CO II sequence of mtDNA in Zhengzhou district can be used effectively to identify some common species of carrion-breeding fly. The method is simple and accurate.